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Subject Details
Country
Lebanon
HPO Terms
Sideroblastic Anemia; Myopathy ; Lactic acidosis
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Sex
Male
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001040436.3:c.156C>G
2
Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2
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References
Shahni et al. 2013
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