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255320.3
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Muscle weakness
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000540.3:c.14209C>T
2
Congenital Myopathy 1B, Autosomal Recessive
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References
Monies et al. 2017
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