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607616.2
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Subject Details
Country
United Arab Emirates
HPO Terms
Hepatosplenomegaly; Obstructive sleep apnea
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Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000543.4:c.1244C>T
2
Niemann-Pick Disease, Type B
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References
Al-Jasmi et al. 2013
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