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Q44226562-7EC12642-3181-4723-A999-2C4062E8599B
Q44226562-7EC12642-3181-4723-A999-2C4062E8599B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44226562-7EC12642-3181-4723-A999-2C4062E8599B
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.
P2860
Q44226562-7EC12642-3181-4723-A999-2C4062E8599B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44226562-7EC12642-3181-4723-A999-2C4062E8599B
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wasDerivedFrom
f1cb074bf09b2a0fb2bac44c9ac95d51d9436b00
P2860
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.