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LDLR gene

Discuss publications and research concerning the LDLR gene.

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The utility of artificial intelligence for DNA variant curation in the Mendelian genetic disorder familial hypercholesterolaemia.
LDLR
Carrier Frequencies of Medically Actionable Pathogenic Variants in the Russian Population.
LDLR
Update on genetics of familial hypercholesterolemia.
LDLR
From physiopathology to treatment of familial hypercholesterolemia: Existing and emerging pharmacotherapies.
LDLR
Functional analysis from ex-vivo characterization of LDLR exon 13-15 duplication associated to familial hypercholesterolemia.
LDLR
Medically actionable DNA variants have a prevalence of 5 % in the Cyprus genetic landscape.
LDLR
Pathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease.
LDLR
Phenotypic and molecular characterization of the exon 13-15 duplication in LDLR: Implications for familial hypercholesterolemia.
LDLR
Investigation of the genetic background of familial hypercholesterolemia in a Turkish cohort and its clinical implications.
LDLR
FUSE: Improving the estimation and imputation of variant impacts in functional screening.
LDLR

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