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266130.1
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Subject Details
Country
Sudan
HPO Terms
Acidosis; Hemolytic anemia; Stridor; Laryngomalacia
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000178.4:c.491G>A
2
Glutathione Synthetase Deficiency
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References
Al-Jishi et al. 1999
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