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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYBPC3

Variant:p.E542K

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MYBPC3

NM_000256.3:p.E542K

hg38:chr11:47342578 C>T

Associated Papers

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy.

Singer ES et al.

Circulation. Genomic and Precision Medicine, 2019

30645170 (PubMed )

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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."