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中文Homocystinuria-Megaloblastic Anemia Cble Type (HMAE)
Alias:
Homocystinuria-Megaloblastic Anemia Due to Defect in Cobalamin Metabolism Cble Complementation Type
Functional Methionine Synthase Deficiency Type Cble
Vitamin B12-Responsive Homocystinuria, Cble Type
Methylcobalamin Deficiency, Cble Type
Hmae
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同型半胱氨酸尿症-巨幼红细胞性贫血Cble型，又称同型半胱氨酸尿症-巨幼红细胞性贫血Cble互补型，与同型半胱氨酸尿症-巨幼红细胞性贫血Cble互补型有关。与同型半胱氨酸尿症-巨幼红细胞性贫血Cble型相关的重要基因是MAFG（MAF BZIP转录因子G），其相关通路/超级通路包括核受体元通路。相关表型是肌肉。
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MALACARDS
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MGI
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