Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHKB

Variant:p.G354R

Back to variants list

CHKB

NM_005198.5:p.G354R

hg38:chr22:50579479 C>G

Associated Papers

Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.

Magri F et al.

Skeletal Muscle, 2022

36175989 (PubMed )

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."