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Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP.
Yin, Lan; Zhu, Yingchuan; Jiang, Wenhao; Song, Yue; Lu, Yilu; Tao, Dachang; Liu, Yunqiang; Ma, Yongxin.
Affiliation
  • Yin L; Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
  • Zhu Y; Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
  • Jiang W; Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
  • Song Y; Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
  • Lu Y; Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
  • Tao D; Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
  • Liu Y; Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
  • Ma Y; Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Ann Hum Genet ; 87(5): 241-247, 2023 09.
Article in En | MEDLINE | ID: mdl-37461830
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Achondroplasia Limits: Humans Language: En Journal: Ann Hum Genet Year: 2023 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Achondroplasia Limits: Humans Language: En Journal: Ann Hum Genet Year: 2023 Document type: Article Affiliation country: