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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LDLR

Variant:p.D331E

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LDLR

NM_000527.5:p.D331E

hg38:chr19:11110704 C>G

Associated Papers

Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Poirier S et al.

Plos One, 2016

27280970 (PubMed )

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