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The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
Ogura, Yurie; Uehara, Tomoko; Ujibe, Kota; Yoshihashi, Hiroshi; Yamada, Mamiko; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro; Hirata, Hiromi.
Afiliação
  • Ogura Y; Department of Chemistry and Biological Science, College of Science and Engineering, Aoyama Gakuin University, Sagamihara, Japan.
  • Uehara T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Ujibe K; Department of Clinical Genetics, Aichi Developmental Disability Center Central Hospital, Aichi, Japan.
  • Yoshihashi H; Department of Chemistry and Biological Science, College of Science and Engineering, Aoyama Gakuin University, Sagamihara, Japan.
  • Yamada M; Department of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Takenouchi T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Kosaki K; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Hirata H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
Am J Med Genet A ; 188(4): 1184-1192, 2022 04.
Article em En | MEDLINE | ID: mdl-35018717
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Animals / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão