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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYLK

Variant:p.E1446K

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MYLK

NM_053025.4:p.E1446K

hg38:chr3:123649050 C>T

Associated Papers

Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants".

Kwartler CS et al.

American Journal of Human Genetics, 2018

29961567 (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."