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212140.5
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Decreased plasma carnitine
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Sex
Unknown
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003060.3:c.248G>T
2
NA
Carnitine Deficiency, Systemic Primary
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References
Al-Shamsi et al. 2014
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