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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MGAM
Variant:
p.N519D
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MGAM
NM_001365693.1:p.N519D
hg38:chr7:142031764 A>G
Frequencies & domains
Associated Papers
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
Huie ML et al.
Human Mutation,
1994
7866409 (PubMed
)
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