Unmasking Retinitis Pigmentosa Complex Cases by a Whole Genome Sequencing Algorithm Based on Open-Access Tools: Hidden Recessive Inheritance and Potential Oligogenic Variants
Journal of Translational Medicine(2020)
Key words
Retinitis Pigmentosa,Inherited retinal dystrophies,WGS,USH2A,ADGRV1,PDZD7,NGS
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