Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.H336R
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HNF1B

NM_000458.4:p.H336R

Associated Papers

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

Fontana P et al.

Genes, 2025

The Clinical Characteristics and Gene Mutations of Maturity-Onset Diabetes of the Young Type 5 in Sixty-One Patients.

Ge S et al.

Frontiers in Endocrinology, 2022

Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report.

Xiao TL et al.

World Journal of Clinical Cases, 2021

COL4A3 Gene Variants and Diabetic Kidney Disease in MODY.

Wang Y et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2018

A case of a novel mutation in HNF1β-related maturity-onset diabetes of the young type 5 with diabetic kidney disease complication in a Chinese family.

Wang Y et al.

Journal of Diabetes and Its Complications, 2017

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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."