Genetic and clinical findings of panel ‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa

ConclusionPanel ‐based targeted exome sequencing revealed 23 novel mutations, recognized different combinations forms of variants, and extended the mutational spectrum of retinitis pigmentosa and depicted common variants in northeast China.

Source: Molecular Genetics & Genomic Medicine - February 27, 2020 Category: Genetics & Stem Cells Authors: Yan Sun, Wei Li, Jian ‐kang Li, Zhuo‐shi Wang, Jin‐yue Bai, Ling Xu, Bo Xing, Wen Yang, Zi‐wei Wang, Lu‐sheng Wang, Wei He, Fang Chen Tags: ORIGINAL ARTICLE Source Type: research