Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L822P
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PTCH1

NM_000264.5:p.L822P

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

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

Spectrum of PTCH1 mutations in French patients with Gorlin syndrome.

Boutet N et al.

The Journal of Investigative Dermatology, 2003

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