First report of novel heterozygous WRAP53 p.Ala522Glyfs*8 mutation associated dyskeratosis congenita.

Magnusson T, Godby RC, Bachiashvili K, Jamy O.

DOI: 10.1111/bjh.17883
Published: 2021-10-14
Container: Br J Haematol
Publisher: Not recorded
Open access: no

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Cite this work

BibTeX

@article{allodium:10.1111/bjh.17883,
  title = {First report of novel heterozygous WRAP53 p.Ala522Glyfs*8 mutation associated dyskeratosis congenita.},
  author = {Magnusson T and  Godby RC and  Bachiashvili K and  Jamy O.},
  year = {2022},
  journal = {Br J Haematol},
  doi = {10.1111/bjh.17883},
  url = {https://doi.org/10.1111/bjh.17883}
}

RIS

TY  - JOUR
TI  - First report of novel heterozygous WRAP53 p.Ala522Glyfs*8 mutation associated dyskeratosis congenita.
AU  - Magnusson T
AU  -  Godby RC
AU  -  Bachiashvili K
AU  -  Jamy O.
PY  - 2022
JO  - Br J Haematol
DO  - 10.1111/bjh.17883
UR  - https://doi.org/10.1111/bjh.17883
ER  -

APA

T, M., RC, G., K, B., & O., J. (2022). First report of novel heterozygous WRAP53 p.Ala522Glyfs*8 mutation associated dyskeratosis congenita.. Br J Haematol. https://doi.org/10.1111/bjh.17883

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europe-pmc · retrieved 2026-09-24T23:28:49.012Z