Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.L145Q
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HNF1B

NM_000458.4:p.L145Q

Associated Papers

Congenital Hepatic Fibrosis and/or Autosomal Recessive Polycystic Kidney Disease: A Single-center Experience.

Altay D et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2026

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

A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.

Sztromwasser P et al.

Pediatric Diabetes, 2020

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

A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).

Kato T et al.

Internal Medicine (tokyo, Japan), 2018

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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."