Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.R441H
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PTCH1

NM_000264.5:p.R441H

Associated Papers

A Japanese case of castration-resistant prostate cancer with BRCA2 and RB1 co-loss and TP53 mutation: a case report.

Iwasawa T et al.

Bmc Medical Genomics, 2022

Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America.

Salvo M et al.

Journal of Personalized Medicine, 2021

Primary cutaneous SMARCB1-deficient carcinoma.

Hui Y et al.

Journal of Cutaneous Pathology, 2021

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

von Stedingk K et al.

Scientific Reports, 2021

33674644 (PubMed )
Supplement: 41598_2021_84502_MOESM2_ESM.xlsx › S10_All_Variants

A programmable method for massively parallel targeted sequencing.

Hopmans ES et al.

Nucleic Acids Research, 2014

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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."