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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
IFI44
Variant:
p.V206_R207insFs
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IFI44
NM_006417.5:p.V206_R207insFs
hg38:chr1:78655137 G>GT
Frequencies & domains
Associated Papers
An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).
Wirth B
Human Mutation,
2000
10679938 (PubMed
)
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