Varaico: Literature-Extracted Genetic Variants

Gene:MYH11
Variant:p.N1526_V1527Splc
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MYH11

NM_002474.3:p.N1526_V1527Splc

Associated Papers

A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.

Chesneau B et al.

Molecular Genetics & Genomic Medicine, 2021

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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."