Varaico: Literature-Extracted Genetic Variants

Gene:PTCH2
Variant:p.Q347*
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PTCH2

NM_003738.5:p.Q347*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study.

Davidson AL et al.

Genome Medicine, 2023

37723522 (PubMed )
Supplement: 13073_2023_1223_MOESM1_ESM.xlsx › Table_S4

Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

Postema FAM et al.

Familial Cancer, 2021

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Altaraihi M et al.

Human Genome Variation, 2019

30820324 (PubMed )
Supplement: 41439_2019_41_MOESM1_ESM.xlsx › gnomad_ENSG00000117425_2018_06_
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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."