Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.I500K
Back to variants list

SMAD4

NM_005359.6:p.I500K

Associated Papers

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Wood KA et al.

American Journal of Human Genetics, 2024

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

Alankarage D et al.

Differentiation; Research in Biological Diversity, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."