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Villate O, Ibarluzea N, Fraile-Bethencourt E, et al. Functional Analyses of a Novel Splice Variant in the . Front Genet. 2018;9:7doi: 10.3389/fgene.2018.00007.
Villate, O., Ibarluzea, N., Fraile-Bethencourt, E., Valenzuela, A., Velasco, E. A., Grozeva, D., Raymond, F. L., Botella, M. P., & Tejada, M. I. (2018). Functional Analyses of a Novel Splice Variant in the . Frontiers in genetics, 97. https://doi.org/10.3389/fgene.2018.00007
Villate, Olatz, et al. "Functional Analyses of a Novel Splice Variant in the ." Frontiers in genetics vol. 9 (2018): 7. doi: https://doi.org/10.3389/fgene.2018.00007
Villate O, Ibarluzea N, Fraile-Bethencourt E, Valenzuela A, Velasco EA, Grozeva D, Raymond FL, Botella MP, Tejada MI. Functional Analyses of a Novel Splice Variant in the . Front Genet. 2018 Jan 26;9:7. doi: 10.3389/fgene.2018.00007. eCollection 2018. PMID: 29434620; PMCID: PMC5790995.
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Front Genet. 2018 Jan 26;9:7. doi: 10.3389/fgene.2018.00007. eCollection 2018.

Functional Analyses of a Novel Splice Variant in the .

Frontiers in genetics

Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A Velasco, Detelina Grozeva, F L Raymond, María P Botella, María-Isabel Tejada

Affiliations

  1. Biocruces Health Research Institute, Barakaldo, Spain.
  2. Molecular Genetics Laboratory, Genetics Service, Cruces University Hospital, Barakaldo, Spain.
  3. Splicing and Cancer Laboratory, Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas, Universidad de Valladolid, Valladolid, Spain.
  4. Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
  5. Department of Pediatrics, Araba University Hospital, Vitoria, Spain.
  6. Clinical Group, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

PMID: 29434620 PMCID: PMC5790995 DOI: 10.3389/fgene.2018.00007

Abstract

Mutations in

Keywords: CHARGE syndrome; CHD7; alternative splicing; minigene; next generation sequencing

References

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