Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ11
Variant:p.S331P
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KCNJ11

NM_000525.4:p.S331P

Associated Papers

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital.

Ngoc CTB et al.

Frontiers in Endocrinology, 2021

A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.

Sztromwasser P et al.

Pediatric Diabetes, 2020

31825128 (PubMed )
Supplement: PEDI-21-422-s002.xlsx › Arkusz1

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

De Franco E et al.

Human Mutation, 2020

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Bansal V et al.

Bmc Medicine, 2017

29207974 (PubMed )
Supplement: 12916_2017_977_MOESM1_ESM.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."