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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GORASP2
Variant:
p.P86L
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GORASP2
NM_015530.5:p.P86L
hg38:chr2:170949651 C>T
Frequencies & domains
Associated Papers
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online.
Balzano N et al.
Human Mutation,
1998
10215411 (PubMed
)
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