Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q663*
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PTCH1

NM_000264.5:p.Q663*

Associated Papers

A nonsense mutation in SUFU associated with multiple infundibulocystic basal cell carcinomas.

Dege T et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2023

37658656 (PubMed )
Supplement: supplement_1.pdf

Analysis of multiple basal cell carcinomas (BCCs) arising in one individual highlights genetic tumor heterogeneity and identifies novel driver mutations.

Xie P et al.

Journal of Cell Communication and Signaling, 2022

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

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

Pastorino L et al.

Plos One, 2012

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