Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
EXT1
Variant:
p.F345del1
Back to variants list
EXT1
NM_000127.3:p.F345del1
hg38:chr8:117837128 TGAA>T
Frequencies & domains
Associated Papers
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.
Kojima H et al.
Genetic Testing,
2008
18976157 (PubMed
)
Select a paper to view details