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OMIM ID
266150
OMIM term:
PYRUVATE CARBOXYLASE DEFICIENCY
Alternative terms:
PC DEFICIENCY
ATAXIA WITH LACTIC ACIDOSIS II
LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUVATE CARBOXYLASE DEFICIENCY
LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY
(∗) Location:
11q13.2
(†) Associated OMIM genes:
PC
(‡) Associated MGI genes:
Mouse
Zebrafish
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