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Article

Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

European journal of human genetics : EJHG - 1 Aug 2015

Sanches João Miguel, Figueiredo Joana, Fonseca Martina, Durães Cecília, Melo Soraia, Esménio Sofia, Seruca Raquel

Abstract excerpt

Missense mutations result in full-length proteins containing an amino acid substitution that can be neutral or deleterious, interfering with the normal conformation, localization, and function of a protein. A striking example is the presence of CDH1 (E-cadherin gene) germline missense variants in hereditary diffuse gastric cancer (HDGC), which represent a clinical burden for genetic counseling and surveillance of...

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Source

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Identifiers

PMID: 25388006
DOI: 10.1038/ejhg.2014.240
PMCID: PMC4795115

Genes

CDH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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