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A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.
Hiraide, Takuya; Shimizu, Kenji; Okumura, Yoshinori; Miyamoto, Sachiko; Nakashima, Mitsuko; Ogata, Tsutomu; Saitsu, Hirotomo.
Affiliation
  • Hiraide T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Shimizu K; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Okumura Y; Division of Medical Genetics, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Miyamoto S; Division of Pediatric Neurology, Shizuoka Children's Hospital, Shizuoka, Japan.
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Ogata T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
J Hum Genet ; 68(7): 499-505, 2023 Jul.
Article in En | MEDLINE | ID: mdl-36894704
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Eye Abnormalities / Kidney Diseases, Cystic Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: Japan
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Eye Abnormalities / Kidney Diseases, Cystic Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Type: Article Affiliation country: Japan