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133540.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Microcephaly; Global developmental delay; Failure to thrive; Cataract
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000124.4:c.2047C>T
2
Cockayne Syndrome B
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References
Monies et al. 2017
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