Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.S70fs
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SMAD3

NM_005902.4:p.S70fs

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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