Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.S115Splc
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HNF1B

NM_000458.4:p.S115Splc

Associated Papers

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

Fontana P et al.

Genes, 2025

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

Prenatal diagnosis of HNF1b mutation allows recognition of neonatal dysglycemia.

Iafusco F et al.

Acta Diabetologica, 2021

New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation.

Kanda S et al.

Pediatric Transplantation, 2016

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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."