Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy
Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Restrictive cardiomyopathy (RCM) is a rare cardiac disorder characterized by diastolic dysfunction and myocardial stiffness, frequently associated with genetic variants. We aimed to explore the genetic basis of RCM in a diagnosed patient through comprehensive genetic analysis.
Whole exome sequencing (WES) was conducted on the proband, followed b...
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Full title
Exploring the c.406 C > T variant in TNNI3 gene: pathogenic insights into restrictive cardiomyopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_c2a882e8fadf487c8ed90a2b25e81906
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c2a882e8fadf487c8ed90a2b25e81906
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ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-025-02150-3
