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231670.G.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Elevated circulating glutaric acid concentration
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000159.4:c.242C>T
2
Glutaric Acidemia I
NM_000159.4:c.427G>A
2
Glutaric Acidemia I
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Remarks
Mutations identified in two Emirati patients
References
Al-Jasmi at al. 2016;
Saleh et al. 2021
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