Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.A158A
Back to variants list

FKRP

NM_024301.5:p.A158A

Associated Papers

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

Oliveira J et al.

Journal of Human Genetics, 2015

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."