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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
RFXANK
Variant:
p.M1I
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RFXANK
NM_003721.4:p.M1I
hg38:chr19:19193949 G>A
Frequencies & domains
Associated Papers
RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency.
Nagarajan UM et al.
Immunity,
1999
10072068 (PubMed
)
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