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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
EXOSC6
Variant:
p.P16insFs
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EXOSC6
NM_058219.3:p.P16insFs
hg38:chr16:70251853 C>CG
Frequencies & domains
Associated Papers
Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
Burke G et al.
Neurology,
2003
14504330 (PubMed
)
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