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De novo pathogenic DHX30 variants in two cases.
Miyake, Noriko; Kim, Chong Ae; Haginoya, Kazuhiro; Castro, Matheus Augusto Araujo; Honjo, Rachel Sayruri; Matsumoto, Naomichi.
Affiliation
  • Miyake N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
  • Kim CA; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
  • Haginoya K; Unidade de Genetica, Instituto da Crianca, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Castro MAA; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan.
  • Honjo RS; Unidade de Genetica, Instituto da Crianca, Universidade de Sao Paulo, Sao Paulo, Brazil.
  • Matsumoto N; Unidade de Genetica, Instituto da Crianca, Universidade de Sao Paulo, Sao Paulo, Brazil.
Clin Genet ; 100(3): 350-351, 2021 09.
Article in En | MEDLINE | ID: mdl-34180050
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / RNA Helicases / Mutation Limits: Adolescent / Adult / Female / Humans Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / RNA Helicases / Mutation Limits: Adolescent / Adult / Female / Humans Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: Country of publication: