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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
KIAA0319
Variant:
p.L218L
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KIAA0319
NM_014809.4:p.L218L
hg38:chr6:24596022 G>A
Frequencies & domains
Associated Papers
De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
Webster R et al.
Clinical Genetics,
2017
27568816 (PubMed
)
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