Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.K409Splc
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MYBPC3

NM_000256.3:p.K409Splc

Associated Papers

Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.

Coll M et al.

International Journal of Molecular Sciences, 2022

Benchmarking deep learning splice prediction tools using functional splice assays.

Riepe TV et al.

Human Mutation, 2021

33942434 (PubMed )
Supplement: HUMU-42-799-s001.xlsx › MYBPC3_NCSS

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Molecular characterization of Portuguese patients with dilated cardiomyopathy.

Sousa A et al.

Revista Portuguesa De Cardiologia, 2019

Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing?

Sousa A et al.

Cardiology Research and Practice, 2019

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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."