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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CELF2
Variant:
p.Y521*
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CELF2
NM_001326342.2:p.Y521*
hg38:chr10:11329050 C>A
Frequencies & domains
Associated Papers
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Itai T et al.
Human Mutation,
2021
33131106 (PubMed
)
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