Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.G334V
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KCNJ11

NM_000525.4:p.G334V

Associated Papers

Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt.

Abdelmeguid Y et al.

Annals of Pediatric Endocrinology & Metabolism, 2022

Neonatal Diabetes Mellitus: Novel Mutations.

Nayak S et al.

Indian Journal of Pediatrics, 2021

Genotype-phenotype correlation of KATP channel gene defects causing permanent neonatal diabetes in Indian patients.

Gopi S et al.

Pediatric Diabetes, 2021

Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.

He B et al.

Journal of Diabetes, 2021

Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.

Garcin L et al.

Pediatric Diabetes, 2020

New insights into KATP channel gene mutations and neonatal diabetes mellitus.

Pipatpolkai T et al.

Nature Reviews. Endocrinology, 2020

Permanent neonatal diabetes: combining sulfonylureas with insulin may be an effective treatment.

Misra S et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2018

Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.

Imbrici P et al.

Frontiers in Pharmacology, 2016

Permanent neonatal diabetes by a new mutation in KCNJ11: unsuccessful switch to sulfonylurea.

Lau E et al.

Archives of Endocrinology and Metabolism, 2015

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE et al.

Cell Metabolism, 2014

24411943 (PubMed )
Supplement: mmc1.pdf
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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."