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607616.3
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Subject Details
Country
Saudi Arabia
HPO Terms
Cholestasis; Abnormal gamma-glutamyltransferase level
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000543.5:c.1267C>T
2
Niemann-Pick Disease, Type B
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References
Monies et al. 2017
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