Varaico: Literature-Extracted Genetic Variants

Gene:MYH11
Variant:p.K1256Q
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MYH11

NM_002474.3:p.K1256Q

Associated Papers

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 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

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome.

Geraghty RM et al.

Journal of Rare Diseases (berlin, Germany), 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

Genetic variants in Chinese patients with sporadic Stanford type A aortic dissection.

Chen ZR et al.

Journal of Thoracic Disease, 2021

Spontaneous coronary artery dissection: Role of prognostic markers and relationship with genetic analysis.

Antonutti M et al.

International Journal of Cardiology, 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."