Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P84insFs
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LDLR

NM_000527.5:p.P84insFs

Associated Papers

Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing.

Hori M et al.

Journal of Clinical Lipidology, 0

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