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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
AIRE
Variant:
p.G228V
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AIRE
NM_000383.4:p.G228V
hg38:chr21:44289687 G>T
Frequencies & domains
Associated Papers
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
Ilmarinen T et al.
Human Mutation,
2005
16114041 (PubMed
)
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