GENETIC ENCYCLOPEDIA
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disease: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

id2
namemitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
variant-disease NM_005518.3(HMGCS2):c.1270C>T (p.Arg424Ter) AND mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_005518.3(HMGCS2):c.*332A>C AND mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_005518.3(HMGCS2):c.88C>G (p.Pro30Ala) AND mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_001166107.1(HMGCS2):c.160G>A (p.Val54Met) AND mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
NM_006623.3(PHGDH):c.*200A>G AND mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
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