Varaico: Literature-Extracted Genetic Variants

Gene:PLCG1
Variant:p.L23_H24del1
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PLCG1

NM_002660.3:p.L23_H24del1

Associated Papers

Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.

Katsanis N et al.

Human Genomics, 2025

41287107 (PubMed )
Supplement: 40246_2025_831_MOESM1_ESM.docx

Phenotypic spectrum of FGF10-related disorders: a systematic review.

Bzdega K et al.

Peerj, 2022

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