Varaico: Literature-Extracted Genetic Variants

Gene:DMGDH
Variant:p.R292C
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DMGDH

NM_013391.3:p.R292C

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: mmc6.xlsx › Table_S5

Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

Marini NJ et al.

American Journal of Medical Genetics. Part A, 2019

31063268 (PubMed )
Supplement: AJMG-179-1260-s006.xlsx › Table_S3
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