Associated Papers
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Aspromonte MC et al.
Human Genetics, 2025
40019509 (PubMed )
Supplement: 439_2025_2733_MOESM2_ESM.xlsx › Table_S2
Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.
Kellermayer D et al.
The Journal of Clinical Investigation, 2024
37962957 (PubMed )
Supplement: jci-134-169753-s012.xlsx › Munka1
New Insights on Genetic Diagnostics in Cardiomyopathy and Arrhythmia Patients Gained by Stepwise Exome Data Analysis.
Kolokotronis K et al.
Journal of Clinical Medicine, 2020
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
31110529 (PubMed )
Supplement: AMS-15-33903-S1.pdf
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