Varaico: Literature-Extracted Genetic Variants

Gene:MYLK
Variant:p.A1491S
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MYLK

NM_053025.4:p.A1491S

Associated Papers

A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis.

Nishijo D et al.

Case Reports in Genetics, 2024

Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype.

Shalata A et al.

Orphanet Journal of Rare Diseases, 2018

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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."