Home
Downloads
UCSC Genome Browser Track
Email Updates
Menu
Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ITGB3
Variant:
p.Q254K
Back to variants list
ITGB3
NM_000212.3:p.Q254K
hg38:chr17:47286405 C>A
Frequencies & domains
Associated Papers
Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.
Lu Z et al.
Platelets,
2020
31088191 (PubMed
)
Select a paper to view details