Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery.
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| Title: | Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery. |
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| Authors: | Zhang, Xiaolei1,2,3,4 (AUTHOR) xiaolei@ebi.ac.uk, Theotokis, Pantazis I.1,2,3 (AUTHOR), Li, Nicholas1,2,3 (AUTHOR), Ashley, Euan (AUTHOR), Colan, Steven D. (AUTHOR), Day, Sharlene M. (AUTHOR), Helms, Adam (AUTHOR), Ho, Carolyn Y. (AUTHOR), Ingles, Jodie (AUTHOR), Jacoby, Daniel (AUTHOR), Lakdawala, Neal K. (AUTHOR), Michels, Michelle (AUTHOR), Olivotto, Iacopo (AUTHOR), Owens, Anjali (AUTHOR), Parikh, Victoria N. (AUTHOR), Pereira, Alexandre C. (AUTHOR), Rossano, Joseph (AUTHOR), Saberi, Sara (AUTHOR), Semsarian, Chris (AUTHOR), Wittekind, Samuel (AUTHOR) |
| Source: | Genome Medicine. 7/11/2024, Vol. 16 Issue 1, p1-12. 12p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 1756994X |
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| DOI: | 10.1186/s13073-024-01358-9 |
