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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CCDC28B
Variant:
p.M1K
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CCDC28B
NM_024296.5:p.M1K
hg38:chr1:32201937 T>A
Frequencies & domains
Associated Papers
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Frank V et al.
Human Mutation,
2008
17705300 (PubMed
)
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