Combining multiplexed functional data to improve variant classification
Fuente:
arXiv
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| Main Authors: | Alliance, Atlas of Variant Effects, :, Calhoun, Jeffrey D., Dawood, Moez, Rowlands, Charlie F., Fayer, Shawn, Radford, Elizabeth J., McEwen, Abbye E., Tejura, Malvika, Turnbull, Clare, Spurdle, Amanda B., Starita, Lea M., Jagannathan, Sujatha |
|---|---|
| Format: | Preprint |
| Published: |
2025
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| Subjects: | |
| Online Access: | |
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