Varaico: Literature-Extracted Genetic Variants

Gene:HGFAC
Variant:p.C237W
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HGFAC

NM_001528.4:p.C237W

Associated Papers

Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.

Belkadi A et al.

Cell Genomics, 2023

36777185 (PubMed )
Supplement: mmc5.xlsx › Table_S4

Co-segregation analysis and functional trial in vivo of candidate genes for monogenic diabetes.

Stankute I et al.

Bmj Open Diabetes Research & Care, 2022

36585034 (PubMed )
Supplement: bmjdrc-2022-003038supp002.pdf
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