Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C82del1
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LDLR

NM_000527.5:p.C82del1

Associated Papers

Harmonizing variant classification for return of results in the All of Us Research Program.

Harrison SM et al.

Human Mutation, 2022

34923710 (PubMed )
Supplement: HUMU-43-1114-s002.xlsx › Supplemental_Table_1
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