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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
TBXT
Variant:
p.N85S
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TBXT
NM_001366285.2:p.N85S
hg38:chr6:166166809 T>C
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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