Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q808*
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PTCH1

NM_000264.5:p.Q808*

Associated Papers

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

The transcriptional landscape of Shh medulloblastoma.

Skowron P et al.

Nature Communications, 2021

33741928 (PubMed )
Supplement: 41467_2021_21883_MOESM5_ESM.xlsx › _B__Functional_Mutations

Mutation of the PTCH1 gene predicts recurrence of breast cancer.

Wang CY et al.

Scientific Reports, 2019

31704974 (PubMed )
Supplement: 41598_2019_52617_MOESM1_ESM.pdf

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM et al.

The Lancet. Oncology, 2018

29753700 (PubMed )
Supplement: mmc1.pdf
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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."