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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GMEB1
Variant:
p.Y85C
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GMEB1
NM_001319674.2:p.Y85C
hg38:chr1:28691627 A>G
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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