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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CCDC40
Variant:
p.E435K
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CCDC40
NM_017950.4:p.E435K
hg38:chr17:80058637 G>A
Frequencies & domains
Associated Papers
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.
Kundu K et al.
Human Mutation,
2017
28497567 (PubMed
)
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