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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MFSD8
Variant:
p.P106insFs
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MFSD8
NM_001371596.2:p.P106insFs
hg38:chr4:127943873 A>AG
Frequencies & domains
Associated Papers
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
Sharp JD et al.
Human Mutation,
2003
12815591 (PubMed
)
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