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Q40301932-3A20BA52-D1A7-47E6-AC16-B9DB4E415FC4
Q40301932-3A20BA52-D1A7-47E6-AC16-B9DB4E415FC4
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Statement
http://www.wikidata.org/entity/statement/Q40301932-3A20BA52-D1A7-47E6-AC16-B9DB4E415FC4
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.
P2860
Q40301932-3A20BA52-D1A7-47E6-AC16-B9DB4E415FC4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40301932-3A20BA52-D1A7-47E6-AC16-B9DB4E415FC4
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wasDerivedFrom
b528947f7dad87c90d5d47016aa67d5688d50302
P2860
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.