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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ITGB3
Variant:
p.S563del1
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ITGB3
NM_000212.3:p.S563del1
hg38:chr17:47292564 CTCA>C
Frequencies & domains
Associated Papers
Effect of c.1431C > T mutation, a causative mutation of Glanzmann's thrombasthenia, on ITGB3 splicing, gene and protein expression.
Wang D et al.
Gene,
2023
37716584 (PubMed
)
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