Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.V103delFs
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PTCH1

NM_000264.5:p.V103delFs

Associated Papers

Biallelic disruption of the PTCH1 gene in multiple basal cell carcinomas in Japanese patients with nevoid basal cell carcinoma syndrome.

Tate G et al.

Acta Medica Okayama, 2014

Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation.

Kijima C et al.

Familial Cancer, 2012

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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."