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Article

Pathogenicity prediction of non-synonymous single nucleotide variants in dilated cardiomyopathy.

Briefings in bioinformatics - 1 Sept 2015

Mueller Sabine C, Backes Christina, Haas Jan, Katus Hugo A, Meder Benjamin, Meese Eckart, Keller Andreas

Abstract excerpt

Non-synonymous single nucleotide variants (nsSNVs) in coding DNA regions can result in phenotypic differences between individuals; however, only some nsSNVs are causative for a certain disease. As just a fraction of respective nsSNVs is annotated in databases, computational biology tools are applied to predict the pathogenicity in silico. In addition to applications in oncology, novel molecular diagnostic tests...

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Identifiers

PMID: 25638801
DOI: 10.1093/bib/bbu054

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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