Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).
- DOI
- 10.1016/j.gim.2022.09.009
- Published
- 2023 Jan
- Container
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publisher
- Not recorded
- Open access
- yes
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limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
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Cite this work
BibTeX
@article{allodium:10.1016/j.gim.2022.09.009,
title = {Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).},
author = {Bhat V and Adzhubei IA and Fife JD and Lebo M and Cassa CA},
year = {2023},
journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
doi = {10.1016/j.gim.2022.09.009},
url = {https://doi.org/10.1016/j.gim.2022.09.009}
}RIS
TY - JOUR TI - Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria). AU - Bhat V AU - Adzhubei IA AU - Fife JD AU - Lebo M AU - Cassa CA PY - 2023 JO - Genetics in medicine : official journal of the American College of Medical Genetics DO - 10.1016/j.gim.2022.09.009 UR - https://doi.org/10.1016/j.gim.2022.09.009 ER -
APA
V, B., IA, A., JD, F., M, L., & CA, C. (2023). Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria).. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2022.09.009
Source records
- pubmed · retrieved 2026-09-26T13:10:36.780Z