Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L431delFs
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PTCH1

NM_000264.5:p.L431delFs

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

Generalized basaloid follicular hamartoma syndrome versus Gorlin syndrome: A diagnostic challenge.

Shevchenko A et al.

Pediatric Dermatology, 2018

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

A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report.

Hellani A et al.

Journal of Medical Case Reports, 2009

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