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278780.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Generalized hypotonia; Neurodevelopmental delay; Seizure
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000123.4:c.205C>T
2
Xeroderma Pigmentosum, Complementation Group G
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References
Al-Shamsi et al. 2016
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