Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.P488S
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HNF1A

NM_000545.8:p.P488S

Associated Papers

Rare Combination of PKD and precocious puberty in a HNF1B mutated little girl.

Nigro E et al.

Urology Case Reports, 2026

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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."