Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.K838_Q839delFs
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PTCH1

NM_000264.5:p.K838_Q839delFs

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

Looking beyond year 1 in the molecular era of pediatric brain tumor diagnosis: confirmatory testing of germline variants found on tumor sequencing.

Greene BL et al.

Frontiers in Oncology, 2024

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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."