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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
PPT2
Variant:
p.M1I
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PPT2
NM_005155.7:p.M1I
hg38:chr6:32154597 G>T
Frequencies & domains
Associated Papers
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE et al.
Human Mutation,
1999
10477428 (PubMed
)
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