Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q973*
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PTCH1

NM_000264.5:p.Q973*

Associated Papers

Mosaicism for a variant in PTCH1 causing nevoid basal cell carcinoma syndrome.

Sheyanth IN et al.

Bmj Case Reports, 2025

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.

Erices JI et al.

Frontiers in Oncology, 2025

Molecular profiling of basal cell carcinomas in young patients.

Abi Karam M et al.

Bmc Medical Genomics, 2021

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."