Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R496S
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SMAD4

NM_005359.6:p.R496S

Associated Papers

Novel SMAD4 mutation causing Myhre syndrome.

Caputo V et al.

American Journal of Medical Genetics. Part A, 2014

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

Caputo V et al.

American Journal of Human Genetics, 2012

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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."