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A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA

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References

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Authors and Affiliations

  1. Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children’s Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, the Netherlands

    Sanami Takada, Ingrid Pico-Knijnenburg & Mirjam van der Burg

  2. Department of Immunology, The Children’s Memorial Health Institute, Warsaw, Poland

    Malgorzata Pac

  3. MRC Center for Medical Mycology, University of Exeter and Great Ormond Street Hospital, London, UK

    Adilia Warris

Authors
  1. Sanami Takada
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  2. Ingrid Pico-Knijnenburg
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  3. Malgorzata Pac
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  4. Adilia Warris
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  5. Mirjam van der Burg
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Corresponding author

Correspondence to Mirjam van der Burg.

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Ethics Approval

This study was part of diagnostics under the guideline of the local Ethic Committees.

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Informed consent was obtained from the patients’ guardians. The healthy control samples were provided from healthy volunteers after receiving their informed consent.

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Consent for publication in the journal article was obtained from the patients’ guardians.

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The authors declare that they have no conflict of interest.

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Takada, S., Pico-Knijnenburg, I., Pac, M. et al. A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA. J Clin Immunol 42, 709–712 (2022). https://doi.org/10.1007/s10875-021-01198-x

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  • DOI: https://doi.org/10.1007/s10875-021-01198-x

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