Associated Papers
Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.
Suzuki T et al.
Journal of the American Heart Association, 2025
40932142 (PubMed )
Supplement: JAH3-14-e041298-s001.zip › jah311383-sup-0001-TableS1.xlsx › Table_S1_CMP_variant_list
Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
Zhang Y et al.
Bmc Pediatrics, 2022
Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency.
Kim YG et al.
Frontiers in Genetics, 2022
36685919 (PubMed )
Supplement: Table2.XLSX › Table_S2
Centronuclear myopathy due to a de novo nonsense variant and a maternally inherited splice-site variant in TTN: A case report.
Huang S et al.
Clinical Case Reports, 2021
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene.
Akhtar MM et al.
Circulation. Heart Failure, 2020
32964742 (PubMed )
Supplement: circhf_circhf-2019-006832_supp1.pdf
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