Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.P280fs
Back to variants list

HNF1B

NM_000458.4:p.P280fs

Associated Papers

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."