Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.
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DOI: 10.1111/aos.15104
Abstract: PURPOSE Variants in six genes encoding pre-mRNA processing factors (PRPFs) are a common cause of autosomal dominant retinitis pigmentosa (ADRP). This study aims to determine the characteristics of potential pathogenic variants (PPVs) in the six… read more here.
Keywords: pre mrna; retinitis pigmentosa; ppvs; house ... See more keywords