Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.P1412L
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PTCH1

NM_000264.5:p.P1412L

Associated Papers

Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients.

Hercent A et al.

Clinical and Experimental Dermatology, 2025

STK10 missense mutations associated with anti-apoptotic function.

Fukumura K et al.

Oncology Reports, 2013

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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."