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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
XPO5
Variant:
p.V552F
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XPO5
NM_020750.3:p.V552F
hg38:chr6:43551372 C>A
Frequencies & domains
Associated Papers
Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.
Hussain HMJ et al.
Human Genomics,
2022
36371311 (PubMed
)
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