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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
ABCD1
Variant:
p.A616insFs
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ABCD1
NM_000033.4:p.A616insFs
hg38:chrX:153743053 C>CT
Frequencies & domains
Associated Papers
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Montalvo AL et al.
Human Mutation,
2006
16917947 (PubMed
)
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