Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.R270Splc
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HNF1B

NM_000458.4:p.R270Splc

Associated Papers

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

Fontana P et al.

Genes, 2025

Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study.

Wu HX et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Renal malformations associated with mutations of developmental genes: messages from the clinic.

Adalat S et al.

Pediatric Nephrology (berlin, Germany), 2010

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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."