Varaico: Literature-Extracted Genetic Variants

Gene:MYLK
Variant:p.R1487*
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MYLK

NM_053025.4:p.R1487*

Associated Papers

Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history.

Luyckx I et al.

Clinical Genetics, 2017

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Proost D et al.

Human Mutation, 2015

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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."