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clgr:Spinal_and_bulbar_muscular_atrophy

clgo:medicalCause

clgr:Mutation

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clgr:ROSAH_syndrome

clgo:medicalCause

clgr:Mutation

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clgr:SRD5A3-CDG

clgo:medicalCause

clgr:Mutation

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n22:

clgo:species

clgr:Mutation

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clgr:Spinal_muscular_atrophy_with_lower_extremity_predominance_1

clgo:medicalCause

clgr:Mutation

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clgr:Shri_Mohan_Jain

clgo:academicDiscipline

clgr:Mutation

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n16:

clgo:species

clgr:Mutation

Subject Item

clgr:Spinal_muscular_atrophy

clgo:medicalCause

clgr:Mutation

Subject Item

clgr:Mutation

rdf:type

clgo:Radiation_health_effect n9: clgo:Paper-and-pencil_game owl:NamedIndividual n18: clgo:Abstract_strategy_game clgo:Mathematical_game clgo:In_Our_Time_programme

rdfs:label

Mutation

owl:sameAs

dbr:Mutation

prov:wasDerivedFrom

n6:Human_variability n7: n6:Human_serum_albumin n6:Genetic_variability n6:Genetic_variant n6:Evolution_of_eusociality n10: n6:Outline_of_genetics n13: n6:EMBOSS n14: n6:List_of_In_Our_Time_programmes n6:Ethen_Beavers n6:Trumpet_repertoire n6:Gonadotropin-releasing_hormone_insensitivity n6:Mutation n6:Biosatellite_2 n21:Radiation_health_effects n6:Outline_of_life_extension n6:Long-term_nonprogressor n6:Human_genetic_resistance_to_malaria n24:Weinberg_principle n6:Libian

skos:prefLabel

Mutation

skos:altLabel

change dominant negative Gain-of-Function Mutations mutagenic potential spontaneously Loss-of-Function Mutations Inactivation Mutation#Harmful mutations dominant negative interference mutates loss of function mutations gain-of-function mutations Loss-of-function mutations genetic change Mutation#in-frame somatic abnormality back mutation mutative allelic mutations somatic gene mutations molecular changes genetic variation allele De novo Mutants phenotypic effects mutato genetic abnormalities loss of function (i.e. inactivating) mutations genetic-variant DNA variation de novo mutations Inactivating mutation mutated cells Loss of function truncated Mutation#Distribution of fitness effects (DFE) aberrant gain-of-function missense mutations mutated gene loss-of-function mutations “loss of function” mutations insertion/deletion gain-of-function sports modified reversions Genetic mutations genetic variant variants activating mutations mutations heritable maladaptations sequence variants mutate DNA mutation gene mutation active mutations single nucleotide mutations Mutation#By inheritance translesion synthesis Spontaneous mutations corruption beneficial mutations gain of function type Reverse mutation DNA mutations genetic mutation large scale gene mutation chromosomal translocation in-frame nucleotide variants rearrangement Deformation (biology) somatic variation mutation rate loss-of-function Mutation#Beneficial mutations Human mutate mutant Genetic Mutation substitutions Mutation#By effect on function deleterious loss of function, (i.e. inactivating) mutations inactivating mutations conditional mutations Gain-of-function derived dominant negative mutation biological mutations mutating deleterious mutation compound heterozygous gene variant produces altered versions genetic changes Mutations interstitial deletion basepair mutations mutation lethal Somatic mutations genetic damage genetic induced somatic mutation homozygous Mutated de novo structure molecular modifications mutagenic modification loss of function mutants spontaneous mutation Loss of function mutations dna mutational Inactivating mutations Back mutation Mutation#Distribution_of_fitness_effects indel loss of function mutation gain-of-function mutation mutated genes or chromosomes defects loss-of-function or gain-of-function mutations Genetic variant acquired mutation errors Mutant mutations, insertions, deletions fast-mutating loss-of-function phenotypes genetic variants Genetic variants loss of function de novo alpha-particles in DNA deformed translocational mutation gene mutations DNA substitution Mutation#By_effect_on_function truncate types of mutations de novo deletion large scale gene mutations variants in the DNA sequence sequence variation mutated gene rearrangement Mutation#Classification_of_mutation_types genetic mutations ''de novo'' mutation variation Genetic mutation Conditional mutations genetic origin ''de novo'' mutations mutation types loss-of-function mutation temperature sensitive mutation double mutations structural variations a mutation mutant gene Interstitial deletions mutational phenotype Mutation#By impact on protein sequence dominant-negative sequence variant reversion mutants inherited gain of function deleterious mutations gene mutants loss or inactivation survived a Nemesis attack mutation analysis lethal and deleterious alleles somatic mutations genetic deviation sport Mutation#Amorphic mutations Variation homozygous mutation DNA alternations inactivating mutation

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clgr:Neuroblastoma

clgo:medicalCause

clgr:Mutation

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n12:Campbell_syndrome

clgo:medicalCause

clgr:Mutation

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clgr:Nikolay_Timofeev-Ressovsky

clgo:knownFor

clgr:Mutation

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clgr:Makoto_Furutani-Seiki

clgo:knownFor

clgr:Mutation

Subject Item

n23:

clgo:species

clgr:Mutation

Subject Item

clgr:Beta-mannosidosis

clgo:medicalCause

clgr:Mutation

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clgr:Maurice_Sanford_Fox

clgo:knownFor

clgr:Mutation

Subject Item

n19:Feil_syndrome

clgo:medicalCause

clgr:Mutation

Subject Item

n8:Ruvalcaba_syndrome

clgo:medicalCause

clgr:Mutation

Subject Item

clgr:Juvenile_polyposis_syndrome

clgo:medicalCause

clgr:Mutation

Subject Item

clgr:Chronic_multifocal_Langerhans_cell_histiocytosis

clgo:medicalCause

clgr:Mutation

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clgr:Fatal_insomnia

clgo:medicalCause

clgr:Mutation

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clgr:Hypodysfibrinogenemia

clgo:medicalCause

clgr:Mutation

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clgr:Congenital_insensitivity_to_pain_with_anhidrosis

clgo:medicalCause

clgr:Mutation

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n15:

clgo:species

clgr:Mutation

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clgr:Wijcik_McIntosh

clgo:hybrid

clgr:Mutation

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n17:

clgo:species

clgr:Mutation