Varaico: Literature-Extracted Genetic Variants

Gene:MYH11
Variant:p.Y134insFs
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MYH11

NM_002474.3:p.Y134insFs

Associated Papers

Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.

de Wagenaar NP et al.

Human Molecular Genetics, 2024

38538566 (PubMed )
Supplement: supplementary_material_ddae044.pdf
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