Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q688*
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PTCH1

NM_000264.5:p.Q688*

Associated Papers

Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.

Harshe I et al.

Journal of Medical Genetics, 2025

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

Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.

Maturo MG et al.

Scientific Reports, 2020

32409749 (PubMed )
Supplement: 41598_2020_65057_MOESM1_ESM.pdf

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

Paulo P et al.

The Journal of Molecular Diagnostics : Jmd, 2017

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

Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.

Pastorino L et al.

Plos One, 2012

PTCH mutations: distribution and analyses.

Lindström E et al.

Human Mutation, 2006

Constitutive activation of the shh-ptc1 pathway by a patched1 mutation identified in BCC.

Barnes EA et al.

Oncogene, 2005

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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."