Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Y873*
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PTCH1

NM_000264.5:p.Y873*

Associated Papers

Plasma ctDNA Monitoring of a PTCH1-Mutant Metastatic Adult Medulloblastoma Showing a Durable Benefit With Vismodegib.

Cabezas-Camarero S et al.

The Oncologist, 2024

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

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

Reinders MG et al.

Molecular Genetics & Genomic Medicine, 2018

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome.

Morita K et al.

Plos One, 2015

PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.

Guo YY et al.

Plos One, 2013

24204797 (PubMed )
Supplement: pone.0077305.s001.docx

Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.

Pan S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

Ultraviolet responses of Gorlin syndrome primary skin cells.

Brellier F et al.

The British Journal of Dermatology, 2008

PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

Sun LS et al.

Journal of Dental Research, 2008

PTCH germline mutations in Chinese nevoid basal cell carcinoma syndrome patients.

Li TJ et al.

Oral Diseases, 2008

Early recognition of basal cell naevus syndrome.

Veenstra-Knol HE et al.

European Journal of Pediatrics, 2005

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.

Boutet N et al.

The Journal of Investigative Dermatology, 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."