Varaico: Literature-Extracted Genetic Variants

Gene:MYH11
Variant:p.Q1293_N1294Splc
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MYH11

NM_001040113.2:p.Q1293_N1294Splc

Associated Papers

Management of Myosin Heavy Chain 11-Associated Familial Thoracic Aortic Aneurysm and Dissection During Pregnancy in Two Siblings.

Pohahau AT et al.

Aorta (stamford, Conn.), 2026

Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.

Wei X et al.

Bmc Medical Genomics, 2024

38773466 (PubMed )
Supplement: 12920_2024_1908_MOESM2_ESM.xlsx › MYH11_hg19

Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts.

Arnaud P et al.

Human Mutation, 2023

Letter to the Editor. Cerebral arteriopathy and the ACTA2 mutation.

Larson AS et al.

Journal of Neurosurgery. Pediatrics, 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."