Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.V173I
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HNF1B

NM_000458.4:p.V173I

Associated Papers

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

Fontana P et al.

Genes, 2025

Evaluating variants classified as pathogenic in ClinVar in the DDD Study.

Wright CF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable2_NotReported

Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

Salloum R et al.

Acta Neuropathologica Communications, 2017

29084603 (PubMed )
Supplement: 40478_2017_479_MOESM2_ESM.xlsx › HGG13

Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience.

Poitou C et al.

Transplant International : Official Journal of the European Society for Organ Transplantation, 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."