Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1.
- DOI
- 10.1172/jci207160
- Published
- 2026 Sep 17
- Container
- The Journal of clinical investigation
- Publisher
- Not recorded
- Open access
- no
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Cite this work
BibTeX
@article{allodium:10.1172/jci207160,
title = {Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1.},
author = {Calhoun JD and Wang C and Biar CG and Gunti JR and Lee JS and Geller AM and Hong JH and Schnell S and Dang LT and Wang Y and Parent JM and Isom LL and Uhler MD and Mefford HC and Ross ME and Aguiar-Pulido V and Carvill GL},
year = {2026},
journal = {The Journal of clinical investigation},
doi = {10.1172/jci207160},
url = {https://doi.org/10.1172/jci207160}
}RIS
TY - JOUR TI - Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1. AU - Calhoun JD AU - Wang C AU - Biar CG AU - Gunti JR AU - Lee JS AU - Geller AM AU - Hong JH AU - Schnell S AU - Dang LT AU - Wang Y AU - Parent JM AU - Isom LL AU - Uhler MD AU - Mefford HC AU - Ross ME AU - Aguiar-Pulido V AU - Carvill GL PY - 2026 JO - The Journal of clinical investigation DO - 10.1172/jci207160 UR - https://doi.org/10.1172/jci207160 ER -
APA
JD, C., C, W., CG, B., JR, G., JS, L., AM, G., JH, H., S, S., LT, D., Y, W., JM, P., LL, I., MD, U., HC, M., ME, R., V, A., & GL, C. (2026). Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1.. The Journal of clinical investigation. https://doi.org/10.1172/jci207160
Source records
- pubmed · retrieved 2026-09-26T02:54:09.970Z
- europe-pmc · retrieved 2026-09-26T02:54:09.954Z