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human Cep290 protein

recognized by monoclonal antibody 3H11; function unknown; GenBank AF317887; RefSeq NM_025114. mutation on cep290 protein gene associated with LEBER CONGENITAL AMAUROSIS 10.
Also Known As:
Cep290 protein, human; 3H11 antigen, human; 3H11Ag tumor-associated antigen, human; CEP65 protein, human; MKS4 protein, human; NPHP6 protein, human; cancer and embryo expression protein 65, human; centrosomal protein 290, human; centrosome protein cep290, human; nephrocystin-6, human
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Bio-Agent Context: Research Results