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Article

Assessment of functional effects of unclassified genetic variants.

Human mutation - 1 Nov 2008

Couch Fergus J, Rasmussen Lene Juel, Hofstra Robert, Monteiro Alvaro N A, Greenblatt Marc S, de Wind Niels

Abstract excerpt

Inherited predisposition to disease is often linked to reduced activity of a disease associated gene product. Thus, quantitation of the influence of inherited variants on gene function can potentially be used to predict the disease relevance of these variants. While many disease genes have been extensively characterized at the functional level, few assays based on functional properties of the encoded proteins...

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Share to PMS2 gene
Share to Genes, Neoplasm
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Genetic Variation

Share to Neoplastic Syndromes, Hereditary

Share to Predictive Value of Tests

Share to Sensitivity and Specificity

Source

Open in PubMed Open full text

Identifiers

PMID: 18951449
DOI: 10.1002/humu.20899
PMCID: PMC2771414

Genes

BRCA1
BRCA2
MLH1
MSH2
MSH6
PMS2

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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