Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L82I
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SMAD4

NM_005359.6:p.L82I

Associated Papers

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

Aretz S et al.

Journal of Medical Genetics, 2007

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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."