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601419.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Myopathy
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001927.4:c.1076_1084del
1
Myopathy, Myofibrillar, Desmin-Related
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References
Monies et al. 2019
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