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610542.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Developmental regression; Retinal degeneration
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001244710.2:c.1588C>T
2
Myasthenic Syndrome, Congenital, 12
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References
Monies et al. 2019
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