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

Renal and extra-renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene.

Tse WT et al.

Prenatal Diagnosis, 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."