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Article

Transcriptional and translational effects of intronic CAPN3 gene mutations.

Human mutation - 1 Sept 2010

Nascimbeni Anna Chiara, Fanin Marina, Tasca Elisabetta, Angelini Corrado

Abstract excerpt

Variants of unknown significance in the CAPN3 gene constitute a significant challenge for genetic counselling. Despite the frequency of intronic nucleotide changes in this gene (15-25% of all mutations), so far their pathogenicity has only been inferred by in-silico analysis, and occasionally, pr...

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Identifiers

PMID: 20635405
DOI: 10.1002/humu.21320
PMCID: PMC2966865

Genes

CAPN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20635405-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Transcriptional and translational effects of intronic CAPN3 gene mutations.PMID 20635405Read ↗

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