Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.E125D
Back to variants list

ACTB

NM_001101.5:p.E125D

Associated Papers

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

Furuichi T et al.

Journal of Medical Genetics, 2011

FGF signaling: its role in bone development and human skeleton diseases.

Su N et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

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."