Varaico: Literature-Extracted Genetic Variants

Gene:GLUD1
Variant:p.S270C
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GLUD1

NM_005271.5:p.S270C

Associated Papers

Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.

Tran C et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
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