Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.E44K
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HNF1B

NM_000458.4:p.E44K

Associated Papers

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Fontana P et al.

Genes, 2025

Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.

Saint-Martin C et al.

Diabetes, 2022

Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors.

Fendler W et al.

Diabetologia, 2016

27059371 (PubMed )
Supplement: 125_2016_3945_MOESM2_ESM.pdf

Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.

Yorifuji T et al.

Pediatric Diabetes, 2012

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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."