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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
GBA1
Variant:
p.I197K
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GBA1
NM_000157.4:p.I197K
hg38:chr1:155238305 A>T
Frequencies & domains
Associated Papers
A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation.
Kılavuz S et al.
Metabolic Brain Disease,
2022
35254599 (PubMed
)
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