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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
CLIP4
Variant:
p.R659Q
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CLIP4
NM_024692.6:p.R659Q
hg38:chr2:29181751 G>A
Frequencies & domains
Associated Papers
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.
Chia PH et al.
Elife,
2018
29784083 (PubMed
)
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