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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD4

Variant:p.R380Splc

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SMAD4

NM_005359.6:p.R380Splc

hg38:chr18:51067018 G>A

Associated Papers

Clinical and Molecular Characterization of SMAD4 Splicing Variants in Patients with Juvenile Polyposis Syndrome.

Forte G et al.

International Journal of Molecular Sciences, 2024

39063183 (PubMed )

Supplement: ijms-25-07939-s001.zip › Supplementary_Figure_2.pdf

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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."