Mutation

    flowchart
    AA["Associated Authors (2)"]
    C[Mutation]
    BC["Broader Concepts (1)"]
    NC["Narrower Concepts (50)"]
    C== skos:broader ==>BC
    NC== skos:broader ==>C
    AA== dcterms:relation ==>C
    click BC "#broader-concepts"
    click NC "#narrower-concepts"
    click AA "#associated-authors"

    NI["add incoming edge"]
    NO["add outgoing edge"]
    NI-- ? -->C
    C-- ? -->NO
    click NI "#add-incoming-edge"
    click NO "#add-outgoing-edge"
    style NI stroke-width:2px,stroke-dasharray: 5 5
    style NO stroke-width:2px,stroke-dasharray: 5 5

Wikidata

https://www.wikidata.org/wiki/Q42918

OpenAlex ID

https://openalex.org/C501734568 (API record)

OpenAlex Description

change of the nucleotide sequence of the genome of an organism

OpenAlex Level [?]

3

Broader Concepts

• Gene

Narrower Concepts

• ARID1A
• ATRX
• Allelic heterogeneity
• Amino acid substitution
• CEBPA
• Compound heterozygosity
• Congenital Neutropenia
• Congenital myasthenic syndrome
• Denaturing high performance liquid chromatography
• Ethyl methanesulfonate
• Exome sequencing
• Fms-Like Tyrosine Kinase 3
• Frameshift mutation
• GNAQ
• Gain of function
• Gene mutation
• Germline mosaicism
• Germline mutation
• Heteroplasmy
• Human mitochondrial genetics
• IDH1
• Insertion
• JAK2 V617F
• Junctional epidermolysis bullosa (veterinary medicine)
• KRAS
• LMNA
• LRRK2
• Leber's hereditary optic neuropathy
• Leigh disease
• Limb-girdle muscular dystrophy
• Maturity onset diabetes of the young
• Methylnitronitrosoguanidine
• Missense mutation
• Mitochondrial encephalomyopathy
• Mitotic crossover
• Mutagenesis
• Mutant protein
• Mutation frequency
• Mutation testing
• Optineurin
• Point mutation
• Proband
• RecBCD
• Sanger sequencing
• Single-strand conformation polymorphism
• Suppressor mutation
• Temperature-sensitive mutant
• Transversion
• V600E
• ΔF508

Associated Authors

• Anuranjan Anand
• Jenna L Everard

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