Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.S151C
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HNF1B

NM_000458.4:p.S151C

Associated Papers

HNF1β Gene Mutation Leading to a MODY5 With Renal Dysplasia: A Case Report.

Han X et al.

Clinical Case Reports, 2025

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

Fontana P et al.

Genes, 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

Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.

Mateus JC et al.

Clinical Diabetes and Endocrinology, 2020

32864159 (PubMed )
Supplement: 40842_2020_103_MOESM1_ESM.docx

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

Heidet L et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2010

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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."