Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q501_V502Splc
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PTCH1

NM_000264.5:p.Q501_V502Splc

Associated Papers

Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors.

Stojanov IJ et al.

The American Journal of Surgical Pathology, 2020

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

PTCH1 and SMO gene alterations in keratocystic odontogenic tumors.

Sun LS et al.

Journal of Dental Research, 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."