P13.018.D Biallelic mutation of CWF19L2, encoding a core spliceosome subunit, causes a combined neurodevelopmental and immunodeficiency disorder.

Poulter, J., Nadat, F., O'Callaghan, E. et al. (13 more authors) (2024) P13.018.D Biallelic mutation of CWF19L2, encoding a core spliceosome subunit, causes a combined neurodevelopmental and immunodeficiency disorder. In: European Journal of Human Genetics. 57th European Society of Human Genetics (ESHG) Conference, 01-04 Jun 2024, Berlin, Germany.

Metadata

Item Type: Proceedings Paper
Authors/Creators:
  • Poulter, J.
  • Nadat, F.
  • O'Callaghan, E.
  • Lawless, D.
  • Alghamdi, A.
  • McCafferty, A.
  • Rose, A.
  • McKimmie, C.
  • Peckham, D.
  • Bond, J.
  • Iqbal, A.
  • Carter, C.
  • Watson, C.
  • McGettrick, H.
  • Doody, G.
  • Savic, S. ORCID logo https://orcid.org/0000-0001-7910-0554
Dates:
  • Published: 6 December 2024
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds)
Depositing User: Symplectic Publications
Date Deposited: 15 May 2025 15:47
Last Modified: 15 May 2025 15:48
Status: Published
Open Archives Initiative ID (OAI ID):

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