High-throughput PRPF31 variant characterisation pipeline consistent with ACMG/AMP clinical variant interpretation guidelines
作者： Liliya Nazlamova , Man-Kim Cheung , Jelmer Legebeke , Jenny Lord , Reuben J. Pengelly
DOI: 10.1101/2020.04.06.20055020
关键词:
摘要: … retinal degeneration and kidney disease; around one third of all cases of retinal dystrophy can be considered retinal … in complex with U4 snRNA and 15.5K (SNU13) protein (Figure 1a). …
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