Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q576*
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PTCH1

NM_000264.5:p.Q576*

Associated Papers

Ethnic-Specific and UV-Independent Mutational Signatures of Basal Cell Carcinoma in Koreans.

Kim YA et al.

International Journal of Molecular Sciences, 2025

40725190 (PubMed )
Supplement: ijms-26-06941-s001.zip › Supplementary_TableS3.xlsx › Only_in_UV-exposed

Molecular alterations in basal cell carcinoma subtypes.

Di Nardo L et al.

Scientific Reports, 2021

34168209 (PubMed )
Supplement: 41598_2021_92592_MOESM3_ESM.xlsx › Foglio1

Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.

Maturo MG et al.

Scientific Reports, 2020

32409749 (PubMed )
Supplement: 41598_2020_65057_MOESM1_ESM.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

Metastatic Basal Cell Carcinoma.

Laga AC et al.

American Journal of Clinical Pathology, 2019

Evaluation of 122 advanced-stage cutaneous squamous cell carcinomas by comprehensive genomic profiling opens the door for new routes to targeted therapies.

Al-Rohil RN et al.

Cancer, 2016

Genomic landscape of advanced basal cell carcinoma: Implications for precision treatment with targeted and immune therapies.

Goodman AM et al.

Oncoimmunology, 0

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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."