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Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome.
Miyamoto, Sachiko; Nakamura, Kazuyuki; Kato, Mitsuhiro; Nakashima, Mitsuko; Saitsu, Hirotomo.
Affiliation
  • Miyamoto S; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Nakamura K; Department of Pediatrics, Yamagata University, Yamagata, Japan.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Ann Hum Genet ; 87(4): 196-202, 2023 07.
Article in En | MEDLINE | ID: mdl-36970932
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Splicing Type of study: Diagnostic_studies Limits: Female / Humans Language: En Journal: Ann Hum Genet Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: RNA Splicing Type of study: Diagnostic_studies Limits: Female / Humans Language: En Journal: Ann Hum Genet Year: 2023 Document type: Article Affiliation country: Country of publication: