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203750.1
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Subject Details
Country
Lebanon
HPO Terms
Metabolic ketoacidosis; Episodic ketoacidosis
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000019.3:c.395C>G
2
Alpha-Methylacetoacetic Aciduria
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Remarks
Patient of Armenian ethnicity
References
Zhang et al, 2004
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
203750.2
Lebanon
Episodic ketoacidosis
Unknown
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