Varaico: Literature-Extracted Genetic Variants

Gene:CHKA
Variant:p.A39D
Back to variants list

CHKA

NM_001277.3:p.A39D

Associated Papers

Genetic diseases of the Kennedy pathways for membrane synthesis.

Tavasoli M et al.

The Journal of Biological Chemistry, 2020

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.

Mitsuhashi S et al.

Current Opinion in Neurology, 2013

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."