Varaico: Literature-Extracted Genetic Variants

Gene:GLUD1
Variant:p.G499D
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GLUD1

NM_005271.5:p.G499D

Associated Papers

Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.

Cheng M et al.

Pediatric Diabetes, 2024

40302972 (PubMed )
Supplement: 3961900.f1.docx

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.

Xu ZD et al.

Endocrine Connections, 2018

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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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."