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NCBI Description of NBAS |
This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. |
Community Annotation of NBAS Add / Edit NBAS: Annotations
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Figure notes
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Data details