Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.Q853*
Back to variants list

PTCH1

NM_000264.5:p.Q853*

Associated Papers

Molecular profiling of basal cell carcinomas in young patients.

Abi Karam M et al.

Bmc Medical Genomics, 2021

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

Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.

Onodera S et al.

International Journal of Molecular Sciences, 2020

33066274 (PubMed )
Supplement: ijms-21-07559-s001.pdf

Global gene expression of histologically normal primary skin cells from BCNS subjects reveals "single-hit" effects that are influenced by rapamycin.

Phatak A et al.

Oncotarget, 2019

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

Reinders MG et al.

Molecular Genetics & Genomic Medicine, 2018

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."