Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.E246delFs
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SMAD3

NM_005902.4:p.E246delFs

Associated Papers

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.

Chesneau B et al.

Molecular Genetics & Genomic Medicine, 2020

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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."