Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.E319A
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MYBPC3

NM_000256.3:p.E319A

Associated Papers

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table2.xlsx › Supplement_2

Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia.

Patel C et al.

Clinical Case Reports, 2020

32884773 (PubMed )
Supplement: CCR3-8-1452-s003.xlsx › Sheet1

Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Kassem HSh et al.

Journal of Cardiovascular Translational Research, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."