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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
KCNB1
Variant:
p.G379fs
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KCNB1
NM_004975.4:p.G379fs
hg38:chr20:49374425 CCC>N
Frequencies & domains
Associated Papers
Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.
Hawkins NA et al.
Neurobiology of Disease,
2021
33132203 (PubMed
)
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