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ENHomocystinuria-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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Homocystinuria-Megaloblastic Anemia Cble Type, also known as homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cble complementation type, is related to homocystinuria-megaloblastic anemia, cble complementation type. An important gene associated with Homocystinuria-Megaloblastic Anemia Cble Type is MAFG (MAF BZIP Transcription Factor G), and among its related pathways/superpathways is Nuclear receptors meta-pathway. Related phenotype is muscle.
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MALACARDS
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