Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.F88_K89insFs
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PTCH1

NM_000264.5:p.F88_K89insFs

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

Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.

Akizawa Y et al.

American Journal of Medical Genetics. Part A, 2016

Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome.

Suzuki M et al.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2013

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

Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report.

Sasaki R et al.

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 2010

[PTCH2 gene alterations in keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome].

Xu LL et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 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."