Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.F248fs
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SMAD3

NM_005902.4:p.F248fs

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

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.

Renner S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."