Varaico: Literature-Extracted Genetic Variants

Gene:MYH11
Variant:p.Q1293del1
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MYH11

NM_001040113.2:p.Q1293del1

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 › summary

Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms.

Yeung KK et al.

Human Mutation, 2017

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