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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
BRD1
Variant:
p.H342Y
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BRD1
NM_001304808.3:p.H342Y
hg38:chr22:49823294 G>A
Frequencies & domains
Associated Papers
Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.
Vallance HD et al.
Human Mutation,
1999
10220152 (PubMed
)
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