Associated Papers
Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants.
Ishikawa T et al.
Cardiovascular Research, 2025
Unravelling the hidden complexity of titin splicing variants.
Fatkin D et al.
Cardiovascular Research, 2025
Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study.
Ravi R et al.
Metabolites, 2022
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC et al.
Annals of Neurology, 2018
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