A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.

Brajadenta GS, Bilan F, Gilbert-Dussardier B, Kitzis A, Thoreau V

DOI: 10.1038/s41431-019-0465-7
Published: 2019 Nov
Container: European journal of human genetics : EJHG
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-019-0465-7,
  title = {A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.},
  author = {Brajadenta GS and Bilan F and Gilbert-Dussardier B and Kitzis A and Thoreau V},
  year = {2019},
  journal = {European journal of human genetics : EJHG},
  doi = {10.1038/s41431-019-0465-7},
  url = {https://doi.org/10.1038/s41431-019-0465-7}
}

RIS

TY  - JOUR
TI  - A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.
AU  - Brajadenta GS
AU  - Bilan F
AU  - Gilbert-Dussardier B
AU  - Kitzis A
AU  - Thoreau V
PY  - 2019
JO  - European journal of human genetics : EJHG
DO  - 10.1038/s41431-019-0465-7
UR  - https://doi.org/10.1038/s41431-019-0465-7
ER  -

APA

GS, B., F, B., B, G., A, K., & V, T. (2019). A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-019-0465-7

Source records

pubmed · retrieved 2026-09-25T15:20:59.265Z