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The rod photoreceptor-specific neural retina leucine zipper protein Nrl is essential for rod differentiation and plays a critical role in regulating gene expression. In the mouse retina, rods account for 97% of the photoreceptors; however, in the absence of Nrl (Nrl-/-), no rods are present and a co...
ORGANISM(S): Mus musculus 
This project containins data for K562 cell line experiments with SF3B1 Mutations
ORGANISM(S): Homo sapiens (Human) 
2024-11-20 | PXD030127 | Pride
Hotspot mutations in the spliceosomal component gene SF3B1 underpin a number of cancers and have a neomorphic function leading to global disruption of canonical splicing and aberrant splicing of hundreds of transcripts. However, the functional consequences of this misplicing and resultant genetic vu...
ORGANISM(S): Homo sapiens (Human) 
2023-04-19 | PXD019046 | Pride
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