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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
NOTCH3
Variant:
p.N293K
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NOTCH3
NM_000435.3:p.N293K
hg38:chr19:15191581 G>C
Frequencies & domains
Associated Papers
A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene.
Ebihara Y et al.
Internal Medicine (tokyo, Japan),
2018
29780132 (PubMed
)
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