Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.P642insFs
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PTCH1

NM_000264.5:p.P642insFs

Associated Papers

Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.

Onodera S et al.

International Journal of Molecular Sciences, 2020

33066274 (PubMed )
Supplement: ijms-21-07559-s001.pdf

Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis.

Huang M et al.

Cell Stem Cell, 2019

New mutations and an updated database for the patched-1 (PTCH1) gene.

Reinders MG et al.

Molecular Genetics & Genomic Medicine, 2018

Basal Cell Carcinoma in Gorlin's Patients: a Matter of Fibroblasts-Led Protumoral Microenvironment?

Gache Y et al.

Plos One, 2015

Ultraviolet responses of Gorlin syndrome primary skin cells.

Brellier F et al.

The British Journal of Dermatology, 2008

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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."