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609285.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Neonatal hypotonia
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Sex
Female
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003289.4:c.121G>A
1
Congenital Myopathy 23
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References
Monies et al. 2017
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