Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa

ConclusionThe gene variants identified in this study expand the variant frequency and spectrum of RP genes; moreover, the identification of these variants supplies foundational clues for future RP diagnosis and therapy.

Source: Molecular Genetics & Genomic Medicine - January 19, 2020 Category: Genetics & Stem Cells Authors: Handong Dan, Xin Huang, Yiqiao Xing, Yin Shen Tags: ORIGINAL ARTICLE Source Type: research