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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
UGT8
Variant:
p.H34Q
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UGT8
NM_001128174.3:p.H34Q
hg38:chr4:114622982 T>A
Frequencies & domains
Associated Papers
Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.
Romey MC et al.
Human Genetics,
0
10480369 (PubMed
)
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