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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
AKAP9
Variant:
p.L2720_V2721Splc
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AKAP9
NM_005751.5:p.L2720_V2721Splc
hg38:chr7:92083164 T>A
Frequencies & domains
Associated Papers
Next-generation sequencing identifies a novel heterozygous I229T mutation on LMNA associated with familial cardiac conduction disease.
Gao Y et al.
Medicine,
2020
32846814 (PubMed
)
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