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Q37718486-0EF0087C-7752-42E2-A776-4D9A0BAC4613
Q37718486-0EF0087C-7752-42E2-A776-4D9A0BAC4613
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37718486-0EF0087C-7752-42E2-A776-4D9A0BAC4613
Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.
P2860
Q37718486-0EF0087C-7752-42E2-A776-4D9A0BAC4613
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37718486-0EF0087C-7752-42E2-A776-4D9A0BAC4613
rank
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type
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Statement
wasDerivedFrom
37310df772d4b0a634f5c286036c7415186625af
P2860
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).