Associated Papers
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
40332002 (PubMed )
Supplement: ijms-26-03509-s001.zip › Table_S1._Medically_ACMG_actionable_findings_and_carrier_status_identified_in_our_study.xlsx › Allele_frequencies
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Wadmore K et al.
International Journal of Molecular Sciences, 2021
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ et al.
Human Mutation, 2020
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy.
Kiselev A et al.
Human Mutation, 2018
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.
Janin A et al.
Clinical Genetics, 2017
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