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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
KCNMB3
Variant:
p.Y254delFs
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KCNMB3
NM_171830.2:p.Y254delFs
hg38:chr3:179242969 TA>T
Frequencies & domains
Associated Papers
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Snape K et al.
Nature Genetics,
2011
21552266 (PubMed
)
Supplement: NIHMS35167-supplement-1.pdf
Select a paper to view details