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Reagents, Molecular Assay, Gene Anomaly, Mutation, CDKN1C

Definition : Molecular assay reagents intended to identify mutations in the cyclin-dependent kinase inhibitor 1C (CDKN1C) gene, located at chromosome 11p15.5, which encodes for a protein that is a negative regulator of cell proliferation and may be involved in maintenance of the nonproliferative state throughout life. Mutations at this locus have been identified in many patients with Beckwith-Wiedemann syndrome (BWS), Wilms' tumor, adrenocortical carcinoma, and rhabdomyosarcoma.

Entry Terms : "Wiedemann-Beckwith Syndrome Gene Mutation Detection Reagents" , "Beckwith-Wiedemann Syndrome Gene Mutation Detection Reagents" , "CDKN1C Gene Mutation Detection Reagents"

UMDC code : 24334

   

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