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215700.G.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Vomiting; Seizure; Lethargy
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_054012.4:c.535T>C
Citrullinemia, Classic
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Remarks
Unknown number of patients with Citrullinaemia type 1
References
Al-Shamsi et al. 2014
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