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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
APP
Variant:
p.L688F
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APP
NM_000484.4:p.L688F
hg38:chr21:25897573 C>G
Frequencies & domains
Associated Papers
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.
Kerr R et al.
Human Mutation,
2000
10649493 (PubMed
)
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