Varaico: Literature-Extracted Genetic Variants

Gene:DMGDH
Variant:p.L300F
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DMGDH

NM_013391.3:p.L300F

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-s005.xlsx › Table_S2

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.

Long T et al.

Nature Genetics, 2017

An exome array study of the plasma metabolome.

Rhee EP et al.

Nature Communications, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."