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de novo mutation · Vinony

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EntityQ3330942· pop 7· linked from 134 articles

de novo mutation

genetic mutation not inherited from a parent

Connections

cystic fibrosis transmembrane conductance regulator

Categories

Evolutionary biology Mutated genes

Sources

wikipedia.externallinksexternallink

ultraviolet radiation

Entity

standard genetic code

genetic disease

tumor protein p53

DNA mismatch repair

pyrimidine dimers

genomic structural variation

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What links here134 pages

chromosome 1q21.1 deletion syndrome

cri-du-chat syndrome

X-linked intellectual disability

Neurofibromin 1

Coffin-Lowry syndrome

Iron-sulfur cluster assembly enzyme

chromosome 1p36 deletion syndrome

tumor suppressor gene

chromosome abnormality

Hallermann-Streiff syndrome

osteogenesis imperfecta

Snijders Blok-Campeau syndrome

facioscapulohumeral muscular dystrophy

history of autism

familial hemiplegic migraine

causes of autism

torsion dystonia

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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).

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reverse genetics

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error catastrophe

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genetic disease

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environmental disease

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nonsense mutation

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DeSanctis–Cacchione syndrome

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