Varaico: Literature-Extracted Genetic Variants

Gene:CEP43
Variant:p.G356D
Back to variants list

CEP43

NM_007045.4:p.G356D

Associated Papers

A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders.

Katagiri T et al.

Nature Communications, 2023

37231012 (PubMed )
Supplement: 41467_2023_38746_MOESM1_ESM.pdf

Pathogenic mutation of ALK2 inhibits induced pluripotent stem cell reprogramming and maintenance: mechanisms of reprogramming and strategy for drug identification.

Hamasaki M et al.

Stem Cells (dayton, Ohio), 2012

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."