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Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family.
Sedaghat-Hamedani, Farbod; Rebs, Sabine; Kayvanpour, Elham; Zhu, Chenchen; Amr, Ali; Müller, Marion; Haas, Jan; Wu, Jingyan; Steinmetz, Lars M; Ehlermann, Philipp; Streckfuss-Bömeke, Katrin; Frey, Norbert; Meder, Benjamin.
Affiliation
  • Sedaghat-Hamedani F; Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Rebs S; DZHK (German Centre for Cardiovascular Research), Partner Site Heidelberg and Mannheim, 69120 Heidelberg, Germany.
  • Kayvanpour E; Department of Internal Medicine III, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Zhu C; Department of Cardiology and Pneumology, Georg-August-University Göttingen, 37073 Göttingen, Germany.
  • Amr A; DZHK (German Centre for Cardiovascular Research), Partner Site Göttingen, 37075 Göttingen, Germany.
  • Müller M; Department of Pharmacology and Toxicology, University of Würzburg, 97070 Würzburg, Germany.
  • Haas J; Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Wu J; DZHK (German Centre for Cardiovascular Research), Partner Site Heidelberg and Mannheim, 69120 Heidelberg, Germany.
  • Steinmetz LM; Department of Internal Medicine III, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Ehlermann P; Department of Genetics, Stanford University, Stanford, CA 94305, USA.
  • Streckfuss-Bömeke K; Institute for Cardiomyopathies Heidelberg (ICH), University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Frey N; DZHK (German Centre for Cardiovascular Research), Partner Site Heidelberg and Mannheim, 69120 Heidelberg, Germany.
  • Meder B; Department of Internal Medicine III, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Int J Mol Sci ; 23(20)2022 Oct 13.
Article in En | MEDLINE | ID: mdl-36293084
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Dilated / Nanopores / Nanopore Sequencing Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Int J Mol Sci Year: 2022 Document type: Article Affiliation country: Germany Country of publication: Switzerland
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Dilated / Nanopores / Nanopore Sequencing Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Int J Mol Sci Year: 2022 Document type: Article Affiliation country: Germany Country of publication: Switzerland