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Q36671101-A419B401-1D1B-4379-B081-7E79C64F5F21
Q36671101-A419B401-1D1B-4379-B081-7E79C64F5F21
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36671101-A419B401-1D1B-4379-B081-7E79C64F5F21
Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.
P932
Q36671101-A419B401-1D1B-4379-B081-7E79C64F5F21
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36671101-A419B401-1D1B-4379-B081-7E79C64F5F21
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
b8eeadf78ecb1955a175da1485f229e84512f7af
P932
4785512
http://www.w3.org/2001/XMLSchema#string