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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MFSD8
Variant:
p.P469L
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MFSD8
NM_001371596.2:p.P469L
hg38:chr4:127920781 G>A
Frequencies & domains
Associated Papers
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Aiello C et al.
Human Mutation,
2009
19177532 (PubMed
)
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