myopathy, lactic acidosis, and sideroblastic anemia 2 (Q66084881)
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A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has material basis in homozyous or compound heterozygous mutation in YARS2 on 12p11.21.
- MLASA2
Language | Label | Description | Also known as |
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English | myopathy, lactic acidosis, and sideroblastic anemia 2 |
A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has material basis in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. |
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1 reference