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Q36671101-75376D94-A784-4BD1-A9ED-970F410C1A4D
Q36671101-75376D94-A784-4BD1-A9ED-970F410C1A4D
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Statement
http://www.wikidata.org/entity/statement/Q36671101-75376D94-A784-4BD1-A9ED-970F410C1A4D
Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.
P2860
Q36671101-75376D94-A784-4BD1-A9ED-970F410C1A4D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36671101-75376D94-A784-4BD1-A9ED-970F410C1A4D
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wasDerivedFrom
e805ee7b47b415432e5bd5f1535d386414fb6017
P2860
Common low-density lipoprotein receptor mutations in the French Canadian population