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Q33960786-74AC2035-D253-49C4-A1ED-1F580C7B6DE2
Q33960786-74AC2035-D253-49C4-A1ED-1F580C7B6DE2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33960786-74AC2035-D253-49C4-A1ED-1F580C7B6DE2
46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene.
P2860
Q33960786-74AC2035-D253-49C4-A1ED-1F580C7B6DE2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33960786-74AC2035-D253-49C4-A1ED-1F580C7B6DE2
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
b14463093bb1816f92d0fc115655c65557f27c61
P2860
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency