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Q35677751-5D4C73C2-A638-417D-88B5-AC1973314790
Q35677751-5D4C73C2-A638-417D-88B5-AC1973314790
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35677751-5D4C73C2-A638-417D-88B5-AC1973314790
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
P2860
Q35677751-5D4C73C2-A638-417D-88B5-AC1973314790
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35677751-5D4C73C2-A638-417D-88B5-AC1973314790
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
bb9e09cace34f72bd92fbe816bf9546467408f5d
P2860
Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.