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Q37089623-12A2D2D1-E6D9-490F-840A-60E988D46E81
Q37089623-12A2D2D1-E6D9-490F-840A-60E988D46E81
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Statement
http://www.wikidata.org/entity/statement/Q37089623-12A2D2D1-E6D9-490F-840A-60E988D46E81
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome
P2860
Q37089623-12A2D2D1-E6D9-490F-840A-60E988D46E81
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37089623-12A2D2D1-E6D9-490F-840A-60E988D46E81
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wasDerivedFrom
62a07d2b1970706b007c939bed19f64e564d0d3e
P2860
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements