Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.L448fs
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PTCH1

NM_000264.5:p.L448fs

Associated Papers

Clinicopathologic and Molecular Characterization of Basal Cell Carcinoma Arising at Sun-protected Sites.

Draper E et al.

The American Journal of Surgical Pathology, 2025

Analysis of Germline and Somatic Mutation in Patients With Developmental Odontogenic Cysts Using Targeted Gene Panel.

Hideshima I et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025

Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome.

Ye L et al.

Bmc Medical Genomics, 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

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

Stojanov IJ et al.

The American Journal of Surgical Pathology, 2020

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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."