Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.V132Splc
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PTCH1

NM_000264.5:p.V132Splc

Associated Papers

Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome.

Harshe I et al.

Journal of Medical Genetics, 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

Relationship between the Expression of CHK2 and p53 in Tumor Tissue and the Course of Papillary Thyroid Cancer in Patients with CHEK2 Germline Mutations.

Gąsior-Perczak D et al.

Cancers, 2024

Molecular profiling of basal cell carcinomas in young patients.

Abi Karam M et al.

Bmc Medical Genomics, 2021

Morphologic, Immunohistochemical, and Molecular Distinction Between Fibroepithelioma of Pinkus and "Fenestrated" Basal Cell Carcinoma.

Russell-Goldman E et al.

The American Journal of Dermatopathology, 2020

New mutations and an updated database for the patched-1 (PTCH1) gene.

Reinders MG et al.

Molecular Genetics & Genomic Medicine, 2018

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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."