Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.G218delFs
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PDX1

NM_000209.4:p.G218delFs

Associated Papers

Congenital Alopecia, Hypoplastic Kidneys, Growth Restriction, Growth Hormone Resistance, and Liver Fibrosis: Confirmation of a New Syndrome Caused by Biallelic Variants in ZPR1.

Quintana K et al.

American Journal of Medical Genetics. Part A, 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."