Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome.

Delinière A, Jaupart L, Janin A, Millat G, Boulin T, Andrini O, Chevalier P

Open source

DOI
10.1016/j.gene.2023.148076
Published
2024 Mar 1
Container
Gene
Publisher
Not recorded
Open access
unknown

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BibTeX

@article{allodium:10.1016/j.gene.2023.148076,
  title = {Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome.},
  author = {Delinière A and Jaupart L and Janin A and Millat G and Boulin T and Andrini O and Chevalier P},
  year = {2024},
  journal = {Gene},
  doi = {10.1016/j.gene.2023.148076},
  url = {https://doi.org/10.1016/j.gene.2023.148076}
}

RIS

TY  - JOUR
TI  - Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome.
AU  - Delinière A
AU  - Jaupart L
AU  - Janin A
AU  - Millat G
AU  - Boulin T
AU  - Andrini O
AU  - Chevalier P
PY  - 2024
JO  - Gene
DO  - 10.1016/j.gene.2023.148076
UR  - https://doi.org/10.1016/j.gene.2023.148076
ER  - 

APA

A, D., L, J., A, J., G, M., T, B., O, A., & P, C. (2024). Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome.. Gene. https://doi.org/10.1016/j.gene.2023.148076

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