Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CMPK1
Variant:
p.D78_Y81del0
Back to variants list
CMPK1
NM_016308.3:p.D78_Y81del0
hg38:chr1:47368529 GATTCACAGT>G
Frequencies & domains
Associated Papers
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
Wong LJ et al.
Hepatology (baltimore, Md.),
2007
17694548 (PubMed
)
Select a paper to view details