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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TOP2B
Variant:
p.D1613H
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TOP2B
NM_001068.3:p.D1613H
hg38:chr3:25598336 C>G
Frequencies & domains
Associated Papers
Mutations in TOP2B cause autosomal-dominant hereditary hearing loss via inhibition of the PI3K-Akt signalling pathway.
Xia W et al.
Febs Letters,
2019
31198993 (PubMed
)
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