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A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature.
Wei, Lan; Hou, Ling; Ying, Yan-Qin; Luo, Xiao-Ping.
Affiliation
  • Wei L; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, 430030, People's Republic of China.
  • Hou L; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, 430030, People's Republic of China.
  • Ying YQ; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, 430030, People's Republic of China.
  • Luo XP; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, 430030, People's Republic of China.
Pharmgenomics Pers Med ; 15: 1-8, 2022.
Article in En | MEDLINE | ID: mdl-35035228
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Pharmgenomics Pers Med Year: 2022 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Pharmgenomics Pers Med Year: 2022 Document type: Article