Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.N289D
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HNF1B

NM_000458.4:p.N289D

Associated Papers

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

Fontana P et al.

Genes, 2025

Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing.

Yu QX et al.

Molecular Syndromology, 2023

Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.

Wang T et al.

Molecular Genetics & Genomic Medicine, 2019

Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1B Patients After Renal Transplantation.

Faguer S et al.

Transplantation, 2016

Expression of renal cystic genes in patients with HNF1B mutations.

Faguer S et al.

Nephron. Clinical Practice, 2012

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.

Faguer S et al.

Kidney International, 2011

Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy.

Oba Y et al.

Kidney Medicine, 0

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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."