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612999.1
Home
Subject Details
Country
Lebanon
HPO Terms
Global developmental delay
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_182961.4:c.18658C>A
1
NM_015180.5:c.19372G>A
1
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
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References
Jalkh et al. 2019
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