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A homozygous missense variant in YTHDC2 induces azoospermia in two siblings.
Tian, Shixiong; Faheem, Muhammad; Satti, Humayoon Shafique; Xiao, Jianqiu; Zhang, Feng; Khan, Tahir Naeem; Liu, Chunyu.
Afiliação
  • Tian S; Shanghai Key Laboratory of Metabolic Remodeling and Health, Institute of Metabolism and Integrative Biology, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Fudan University, Shanghai, 200438, China.
  • Faheem M; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Satti HS; National Institute of Advance Studies and Research, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Xiao J; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Zhang F; Division of Bone and Mineral Diseases, Musculoskeletal Research Center, Washington University School of Medicine, St. Louis, MO, 63110, USA.
  • Khan TN; Shanghai Key Laboratory of Metabolic Remodeling and Health, Institute of Metabolism and Integrative Biology, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Fudan University, Shanghai, 200438, China.
  • Liu C; Soong Ching Ling Institute of Maternity and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Mol Genet Genomics ; 299(1): 84, 2024 Sep 02.
Article em En | MEDLINE | ID: mdl-39223386
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linhagem / Mutação de Sentido Incorreto / Irmãos / Azoospermia / Sequenciamento do Exoma / Homozigoto Limite: Adult / Animals / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linhagem / Mutação de Sentido Incorreto / Irmãos / Azoospermia / Sequenciamento do Exoma / Homozigoto Limite: Adult / Animals / Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2024 Tipo de documento: Article