Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.R54G
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CDH1

NM_004360.5:p.R54G

Associated Papers

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Munté E et al.

Bioinformatics (oxford, England), 2023

36916756 (PubMed )
Supplement: btad128_supplementary_data.zip › btad128_Supplementary_Data › Supplementary_tables10022023.xlsx › ST8-CDH1

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Garcia-Pelaez J et al.

The Lancet. Oncology, 2023

36436516 (PubMed )
Supplement: mmc1.pdf

NGS Panel Testing of Triple-Negative Breast Cancer Patients in Cyprus: A Study of BRCA-Negative Cases.

Zanti M et al.

Cancers, 2020

33120919 (PubMed )
Supplement: cancers-12-03140-s001.pdf

Telomere alterations in neurofibromatosis type 1-associated solid tumors.

Rodriguez FJ et al.

Acta Neuropathologica Communications, 2019

31462295 (PubMed )
Supplement: 40478_2019_792_MOESM1_ESM.pdf

Next-generation sequencing in familial breast cancer patients from Lebanon.

Jalkh N et al.

Bmc Medical Genomics, 2017

Molecular profiling of soft tissue sarcomas using next-generation sequencing: a pilot study toward precision therapeutics.

Jour G et al.

Human Pathology, 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."