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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CEP104
Variant:
p.R215*
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CEP104
NM_014704.4:p.R215*
hg38:chr1:3839700 G>A
Frequencies & domains
Associated Papers
CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome.
Badv RS et al.
Molecular Biology Reports,
2022
35359234 (PubMed
)
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