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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
MYOG
Variant:
p.Y9*
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MYOG
NM_002479.6:p.Y9*
hg38:chr1:203085935 G>C
Frequencies & domains
Associated Papers
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
Ohno K et al.
Human Molecular Genetics,
2003
12651869 (PubMed
)
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