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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GP1BA
Variant:
p.D89fs
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GP1BA
NM_000173.7:p.D89fs
hg38:chr17:4932869 GAT>N
Frequencies & domains
Associated Papers
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A et al.
Human Mutation,
2014
24934643 (PubMed
)
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