Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R496P
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SMAD4

NM_005359.6:p.R496P

Associated Papers

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Dulak AM et al.

Nature Genetics, 2013

23525077 (PubMed )
Supplement: NIHMS474888-supplement-1.pdf

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.

Alankarage D et al.

Differentiation; Research in Biological Diversity, 0

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