Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A18P
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LDLR

NM_000527.5:p.A18P

Associated Papers

LDLR variant classification through activity-normalized prime editing screening.

Zhou PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41473288 (PubMed )
Supplement: media-5.xlsx › SuppTable5

High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.

Rodríguez-Gutiérrez PG et al.

Archives of Medical Research, 2024

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