Varaico: Literature-Extracted Genetic Variants

Gene:PTCH1
Variant:p.G1012S
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PTCH1

NM_000264.5:p.G1012S

Associated Papers

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.

Guijarro F et al.

Blood Advances, 2023

37450374 (PubMed )
Supplement: BLOODA_ADV-2023-009742-mmc2.xlsx › 20220406_291_germline_paired_gn

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

Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.

Li C et al.

Genes, 2020

32824926 (PubMed )
Supplement: genes-11-00953-s001.zip › Table_S4.xlsx › Sheet1

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1
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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."