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Article

Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.

International journal of molecular sciences - 10 Nov 2016

Frisso Giulia, Detta Nicola, Coppola Pamela, Mazzaccara Cristina, Pricolo Maria Rosaria, D'Onofrio Antonio, Limongelli Giuseppe, Calabrò Raffaele, Salvatore Francesco

Abstract excerpt

Point mutations are the most common cause of inherited diseases. Bioinformatics tools can help to predict the pathogenicity of mutations found during genetic screening, but they may work less well in determining the effect of point mutations in non-coding regions. In silico analysis of intronic variants can reveal their impact on the splicing process, but the consequence of a given substitution is generally not...

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Source

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Identifiers

PMID: 27834932
DOI: 10.3390/ijms17111883
PMCID: PMC5133883

Genes

MYBPC3
ACTC1

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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