Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R380insFs
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SMAD4

NM_005359.6:p.R380insFs

Associated Papers

A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.

Micolonghi C et al.

Diagnostics (basel, Switzerland), 2022

Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.

Contestabile MT et al.

Molecular Vision, 2014

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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."