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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CYP4F22
Variant:
p.I233L
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CYP4F22
NM_173483.4:p.I233L
hg38:chr19:15540475 A>C
Frequencies & domains
Associated Papers
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
Hotz A et al.
Human Mutation,
2018
30011118 (PubMed
)
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