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Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.
Kessi, Miriam; Chen, Baiyu; Shan, Li-Dan; Wang, Ying; Yang, Lifen; Yin, Fei; He, Fang; Peng, Jing; Wang, Guoli.
Affiliation
  • Kessi M; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
  • Chen B; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
  • Shan LD; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
  • Wang Y; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
  • Yang L; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
  • Yin F; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
  • He F; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
  • Peng J; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
  • Wang G; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.
BMC Med Genomics ; 16(1): 46, 2023 03 07.
Article in En | MEDLINE | ID: mdl-36882827
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Munc18 Proteins / Genetic Association Studies / Intellectual Disability / Nitrazepam Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Med Genomics Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Munc18 Proteins / Genetic Association Studies / Intellectual Disability / Nitrazepam Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Med Genomics Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication: