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254090.5
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Subject Details
Country
Saudi Arabia
HPO Terms
Hypotonia
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004369.4:c.7162+1G>A
2
Ullrich Congenital Muscular Dystrophy 1
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References
Monies et al. 2017
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