Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.E81*
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HNF1B

NM_000458.4:p.E81*

Associated Papers

Bilateral Glomerulocystic Kidney Disease With Extensive Embryonal Hyperplasia in a Setting of HNF1B Mutation.

Havens JA et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 2026

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

Fontana P et al.

Genes, 2025

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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."