Varaico: Literature-Extracted Genetic Variants

Gene:MYH11
Variant:p.L1243P
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MYH11

NM_002474.3:p.L1243P

Associated Papers

MYH11 mutation carriers manifest not only with an aortic dissection, but also with cerebrovascular, urological, and gastrointestinal disease.

Finsterer J

Forensic Science, Medicine, and Pathology, 2024

A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.

Pan M et al.

Forensic Science, Medicine, and Pathology, 2024

Early Onset Parkinson Syndrome, Type A Aortic Aneurysm and Noncompaction Associated With the Novel Variant c.2225C>T in MYH11: A Case Report.

Finsterer J et al.

Cureus, 2023

Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Li J 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."