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611126.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Hypotonia; Cardiomyopathy; Death in childhood
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_014049.5:c.1240C>T
2
Mitochondrial Complex I Deficiency, Nuclear Type 20
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References
Al-Hassnan et al. 2020
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