Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain
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DOI: 10.1101/gr.279415.124
Abstract: The transcription factor (TF) cone-rod homeobox (CRX) is essential for the differentiation and maintenance of photoreceptor cell identity. Several human CRX variants cause degenerative retinopathies, but most are variants of uncertain significance. We performed a… read more here.
Keywords: crx; mutational scanning; cell; effector domain ... See more keywords