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Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.
Zheng, Yanyan; Yang, Le; Niu, Mengmeng; Zhao, Siyu; Liang, Lili; Wu, Yan; Li, Taoli; Yang, Fan; Yang, Zuozhen; Wang, Yan; Wang, Dong.
Affiliation
  • Zheng Y; Department of Neurology, Xi'an Children's Hospital, Xi'an, China.
  • Yang L; Department of Neurology, Xi'an Children's Hospital, Xi'an, China.
  • Niu M; Department of Neurology, Xi'an Children's Hospital, Xi'an, China.
  • Zhao S; Department of Neurology, Xi'an Children's Hospital, Xi'an, China.
  • Liang L; Department of Neurology, Xi'an Children's Hospital, Xi'an, China.
  • Wu Y; Department of Neurology, Xi'an Children's Hospital, Xi'an, China.
  • Li T; Department of Neurology, Xi'an Children's Hospital, Xi'an, China.
  • Yang F; Cipher Gene LLC, Beijing, China.
  • Yang Z; Cipher Gene LLC, Beijing, China.
  • Wang Y; Department of Neurology, Xi'an Children's Hospital, Xi'an, China.
  • Wang D; Department of Neurology, Xi'an Children's Hospital, Xi'an, China.
Mol Genet Genomic Med ; 11(11): e2251, 2023 Nov.
Article in En | MEDLINE | ID: mdl-37493007
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Mol Genet Genomic Med Year: 2023 Type: Article Affiliation country: China
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Mol Genet Genomic Med Year: 2023 Type: Article Affiliation country: China