Classification models for KCNQ1 variants distinguish functional and trafficking effects to enhance pathogenicity interpretation

Ana C. Chang-Gonzalez, Eric W. Bell, Carlos G. Vanoye, Eduardo Guadarrama, Reshma R. Desai, Jean-Marc DeKeyser, Kathryn R. Butcher, James Scott, Charles R. Sanders, Alfred L. George, Kaitlyn V. Ledwitch, Jens Meiler

Open source

DOI
10.1073/pnas.2537217123
Published
2026-07-21
Container
Proceedings of the National Academy of Sciences
Publisher
National Academy of Sciences
Open access
unknown

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BibTeX

@article{allodium:10.1073/pnas.2537217123,
  title = {Classification models for KCNQ1 variants distinguish functional and trafficking effects to enhance pathogenicity interpretation},
  author = {Ana C. Chang-Gonzalez and Eric W. Bell and Carlos G. Vanoye and Eduardo Guadarrama and Reshma R. Desai and Jean-Marc DeKeyser and Kathryn R. Butcher and James Scott and Charles R. Sanders and Alfred L. George and Kaitlyn V. Ledwitch and Jens Meiler},
  year = {2026},
  journal = {Proceedings of the National Academy of Sciences},
  doi = {10.1073/pnas.2537217123},
  url = {https://doi.org/10.1073/pnas.2537217123}
}

RIS

TY  - JOUR
TI  - Classification models for KCNQ1 variants distinguish functional and trafficking effects to enhance pathogenicity interpretation
AU  - Ana C. Chang-Gonzalez
AU  - Eric W. Bell
AU  - Carlos G. Vanoye
AU  - Eduardo Guadarrama
AU  - Reshma R. Desai
AU  - Jean-Marc DeKeyser
AU  - Kathryn R. Butcher
AU  - James Scott
AU  - Charles R. Sanders
AU  - Alfred L. George
AU  - Kaitlyn V. Ledwitch
AU  - Jens Meiler
PY  - 2026
JO  - Proceedings of the National Academy of Sciences
DO  - 10.1073/pnas.2537217123
UR  - https://doi.org/10.1073/pnas.2537217123
ER  - 

APA

Chang-Gonzalez, A. C., Bell, E. W., Vanoye, C. G., Guadarrama, E., Desai, R. R., DeKeyser, J., Butcher, K. R., Scott, J., Sanders, C. R., George, A. L., Ledwitch, K. V., & Meiler, J. (2026). Classification models for KCNQ1 variants distinguish functional and trafficking effects to enhance pathogenicity interpretation. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.2537217123

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