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Q43795122-1348EF29-E850-4798-A401-E4F6E866E84A
Q43795122-1348EF29-E850-4798-A401-E4F6E866E84A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q43795122-1348EF29-E850-4798-A401-E4F6E866E84A
Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy.
P2860
Q43795122-1348EF29-E850-4798-A401-E4F6E866E84A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q43795122-1348EF29-E850-4798-A401-E4F6E866E84A
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wasDerivedFrom
eddc82b779707cf5492f48b0cbbbe26944f0f92a
P2860
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.