Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.N871delFs
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PTCH1

NM_000264.5:p.N871delFs

Associated Papers

Biallelic alterations of the large tumor suppressor 1 (LATS1) gene in infiltrative, but not superficial, basal cell carcinomas in a Japanese patient with nevoid basal cell carcinoma syndrome.

Tate G et al.

Medical Molecular Morphology, 2015

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

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.

Takahashi C et al.

Journal of Human Genetics, 2009

A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma.

Tate G et al.

Japanese Journal of Clinical Oncology, 2003

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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."