Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.R1391Q
Back to variants list

PTCH1

NM_000264.5:p.R1391Q

Associated Papers

Whole-exome sequencing of individuals from an isolated population under extreme conditions implicates rare risk variants of schizophrenia.

Chen L et al.

Translational Psychiatry, 2024

38951484 (PubMed )
Supplement: 41398_2024_2984_MOESM1_ESM.pdf

Evaluation of Hedgehog Pathway Inhibition on Nevoid Basal Cell Carcinoma Syndrome Fibroblasts and Basal Cell Carcinoma-Associated Fibroblasts: Are Vismodegib and Sonidegib Useful to Target Cancer-Prone Fibroblasts?

Eibenschutz L et al.

Cancers, 2021

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3

Pan-cancer whole-genome analyses of metastatic solid tumours.

Priestley P et al.

Nature, 2019

31645765 (PubMed )
Supplement: 41586_2019_1689_MOESM14_ESM.xlsx › Sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."