Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.W171R
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HNF1B

NM_000458.4:p.W171R

Associated Papers

HNF1B-related diabetes mellitus in a Korean patient with Kabuki syndrome: a case report and literature review.

Lee S et al.

Annals of Pediatric Endocrinology & Metabolism, 2025

Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.

Buffin-Meyer B et al.

Kidney International Reports, 2024

39156164 (PubMed )
Supplement: mmc1.pdf

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

Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young.

Mantovani V et al.

Human Mutation, 2003

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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."