Preferred Label : MACROD2 protein, human;
MeSH note : A 250 kb de novo microdeletion at 20p12.1, deleting exon 5 of C20orf133, was seen
in a Kabuki syndrome case. RefSeq NM_001033087.1;
MeSH synonym : C20orf133 protein, human; dJ631M13.5 protein, human; MACRO domain containing 2 protein, human; chromosome 20 open reading frame 133 protein, human;
Is substance : O;
Origin ID : C523332;
UMLS CUI : C2000388;
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