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Saturation mutagenesis-reinforced functional assays for disease-related genes.
Ma K, Huang S, Ng KK, Lake NJ, Joseph S, Xu J, Lek A, Ge L, Woodman KG, Koczwara KE, Cohen J, Ho V, O'Connor CL, Brindley MA, Campbell KP, Lek M. Ma K, et al. Among authors: xu j. Cell. 2024 Nov 14;187(23):6707-6724.e22. doi: 10.1016/j.cell.2024.08.047. Epub 2024 Sep 25. Cell. 2024. PMID: 39326416
Deep Mutational Scanning in Disease-related Genes with Saturation Mutagenesis-Reinforced Functional Assays (SMuRF).
Ma K, Huang S, Ng KK, Lake NJ, Joseph S, Xu J, Lek A, Ge L, Woodman KG, Koczwara KE, Cohen J, Ho V, O'Connor CL, Brindley MA, Campbell KP, Lek M. Ma K, et al. Among authors: xu j. bioRxiv [Preprint]. 2024 Jun 25:2023.07.12.548370. doi: 10.1101/2023.07.12.548370. bioRxiv. 2024. Update in: Cell. 2024 Nov 14;187(23):6707-6724.e22. doi: 10.1016/j.cell.2024.08.047 PMID: 37873263 Free PMC article. Updated. Preprint.
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.
Rai A, Klonowski J, Yuan B, Coveler KJ, Dardas Z, Egab I, Xu J, Lupo PJ, Agopian AJ, Kostka D, Lo CW, Yi SS, Gelb BD, Seidman CE, Boerwinkle E, Posey JE, Gibbs RA, Lupski JR, Morris SA, Coban-Akdemir Z. Rai A, et al. Among authors: xu j. medRxiv [Preprint]. 2024 Nov 21:2024.11.19.24317385. doi: 10.1101/2024.11.19.24317385. medRxiv. 2024. PMID: 39606420 Free PMC article. Preprint.
66,268 results
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