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Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome.
Potter, Amiee B; O'Brien, Timothy D; Kulkarni, Arpita; McCabe, Sarah; Matthews, Kathryn; Kovak, Karen; Rogers, Caleb; Richards, C Sue; Moore, Stephen.
Affiliation
  • Potter AB; Knight Diagnostic Laboratories, Oregon Health & Science University (OHSU), Portland, Oregon, USA.
  • O'Brien TD; Knight Diagnostic Laboratories, Oregon Health & Science University (OHSU), Portland, Oregon, USA.
  • Kulkarni A; Knight Diagnostic Laboratories, Oregon Health & Science University (OHSU), Portland, Oregon, USA.
  • McCabe S; Knight Diagnostic Laboratories, Oregon Health & Science University (OHSU), Portland, Oregon, USA.
  • Matthews K; Pathology, OHSU, Portland, Oregon, USA.
  • Kovak K; Molecular and Medical Genetics, OHSU, Portland, Oregon, USA.
  • Rogers C; Molecular and Medical Genetics, OHSU, Portland, Oregon, USA.
  • Richards CS; Knight Diagnostic Laboratories, Oregon Health & Science University (OHSU), Portland, Oregon, USA.
  • Moore S; Molecular and Medical Genetics, OHSU, Portland, Oregon, USA.
Clin Genet ; 104(2): 269-271, 2023 08.
Article in En | MEDLINE | ID: mdl-36932902
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pierre Robin Syndrome / Clubfoot / Heart Defects, Congenital Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Clin Genet Year: 2023 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pierre Robin Syndrome / Clubfoot / Heart Defects, Congenital Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Clin Genet Year: 2023 Document type: Article