Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.G68fs
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PTCH1

NM_000264.5:p.G68fs

Associated Papers

Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.

Harshe I et al.

Journal of Medical Genetics, 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."