Varaico: Literature-Extracted Genetic Variants

Gene:GLUD1
Variant:p.R274C
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GLUD1

NM_005271.5:p.R274C

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

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.

Aftab S et al.

Endocrine Connections, 2023

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.

Hopkins JJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.

Boodhansingh KE et al.

Hormone Research in Paediatrics, 2022

Clinical and genetic characteristics of patients with congenital hyperinsulinism in 21 non-consanguineous families from Serbia.

Raicevic M et al.

European Journal of Pediatrics, 2021

Diagnosis of congenital Hyperinsulinism can occur not only in infancy but also in later age: a new flow chart from a single center experience.

Casertano A et al.

Italian Journal of Pediatrics, 2020

Hyperinsulinism-hyperammonemia Syndrome in an Infant with Seizures.

Strajnar A et al.

Balkan Journal of Medical Genetics : Bjmg, 2018

Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients.

Su C et al.

Journal of Diabetes Research, 2018

Clinical and genetic characterization of congenital hyperinsulinism in Spain.

Martínez R et al.

European Journal of Endocrinology, 2016

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."