Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

• Umut Gerlevik ,

  Contributed equally to this work with: Umut Gerlevik, Ceren Saygı

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Visualization, Writing – original draft, Writing – review & editing

  Current address: Department of Biochemistry, University of Oxford, Oxford, United Kingdom

  Affiliation Department of Biostatistics and Bioinformatics, Institute of Health Sciences, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey

  https://orcid.org/0000-0003-4288-6340

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• Ceren Saygı ,

  Contributed equally to this work with: Umut Gerlevik, Ceren Saygı

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey

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• Hakan Cangül,

  Roles Resources, Supervision, Writing – review & editing

  Affiliation Center for Genetic Diagnosis, Istanbul Medipol University, Istanbul, Turkey

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• Aslı Kutlu,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Writing – original draft, Writing – review & editing

  Affiliations Department of Biostatistics and Bioinformatics, Institute of Health Sciences, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey, Bioinformatics & Genetics, Faculty of Engineering and Natural Science, İstinye University, İstanbul, Turkey

  https://orcid.org/0000-0002-9169-388X

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• Erdal Fırat Çaralan,

  Roles Investigation, Validation

  Affiliation Center for Genetic Diagnosis, Istanbul Medipol University, Istanbul, Turkey

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• Yasemin Topçu,

  Roles Resources

  Affiliation Department of Pediatric Neurology, Faculty of Medicine, Istanbul Medipol University, Istanbul, Turkey

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• Nesrin Özören,

  Roles Supervision, Writing – review & editing

  Affiliation Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey

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• Osman Uğur Sezerman

  Roles Conceptualization, Project administration, Resources, Supervision, Writing – review & editing

  * E-mail: ugur.sezerman@acibadem.edu.tr

  Affiliations Department of Biostatistics and Bioinformatics, Institute of Health Sciences, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey, Department of Biostatistics and Medical Informatics, School of Medicine, Acıbadem Mehmet Ali Aydınlar University, Istanbul, Turkey

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