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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
SF3B6
Variant:
p.Y61C
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SF3B6
NM_016047.4:p.Y61C
hg38:chr2:24068427 T>C
Frequencies & domains
Associated Papers
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
Zhang K et al.
Blood,
2011
21881043 (PubMed
)
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