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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CEP290
Variant:
p.Q1862_G1863Splc
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CEP290
NM_025114.4:p.Q1862_G1863Splc
hg38:chr12:88077345 C>T
Frequencies & domains
Associated Papers
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Perrault I et al.
Human Mutation,
2007
17345604 (PubMed
)
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