Varaico: Literature-Extracted Genetic Variants

Gene:CDH1
Variant:p.M1V
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CDH1

NM_004360.5:p.M1V

Associated Papers

Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Moschella B et al.

Genes, 2025

Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience.

Calvello M et al.

Genes, 2023

37239438 (PubMed )
Supplement: genes-14-01077-s001.zip › Table_S3.pdf

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

The Genomic Landscape of Lobular Breast Cancer.

McCart Reed AE et al.

Cancers, 2021

33919581 (PubMed )
Supplement: cancers-13-01950-s001.zip › cancers-1163927-supplementary_tables.xlsx › Table_S1_WES

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.

Selvanathan A et al.

Genes, 2020

32260281 (PubMed )
Supplement: genes-11-00391-s001.zip › genes-715863-supplementary.xlsx › Final_Variant_List

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Kanavy DM et al.

Genome Medicine, 2019

31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S8_PAH_A

Genetics of the corneal endothelial dystrophies: an evidence-based review.

Aldave AJ et al.

Clinical Genetics, 2013

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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."