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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
RPS3A
Variant:
p.K20N
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RPS3A
NM_001006.5:p.K20N
hg38:chr4:151099712 A>T
Frequencies & domains
Associated Papers
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Miyake N et al.
Science (new York, N.y.),
2008
18653847 (PubMed
)
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