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Q57917032-55CDB149-5153-4D12-B56E-A8AC433F21CE
Q57917032-55CDB149-5153-4D12-B56E-A8AC433F21CE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57917032-55CDB149-5153-4D12-B56E-A8AC433F21CE
Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family
P50
Q57917032-55CDB149-5153-4D12-B56E-A8AC433F21CE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57917032-55CDB149-5153-4D12-B56E-A8AC433F21CE
rank
NormalRank
type
BestRank
Statement
P1545
10
http://www.w3.org/2001/XMLSchema#string
P1932
Helena Caria
http://www.w3.org/2001/XMLSchema#string
P50
H. Caria