Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.G349Splc
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HNF1B

NM_000458.4:p.G349Splc

Associated Papers

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

Fontana P et al.

Genes, 2025

The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.

Rapini N et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus

Şimşek E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

A rare cause of transient neonatal diabetes mellitus: Spontaneous HNF1B splice variant.

Pezzino G et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2024

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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."