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American Journal of Human Genetics|May 30, 2017
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome ResourceNatasha T Strande, Erin Rooney Riggs, Adam H Buchanan, et al.
Vaccines|October 26, 2021
A Single Dose of a Hybrid hAdV5-Based Anti-COVID-19 Vaccine Induces a Long-Lasting Immune Response and Broad Coverage against VOCM Verónica López, Sabrina E Vinzón, Eduardo G A Cafferata, et al.
Human Mutation|October 13, 2018
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working GroupElizabeth M Webber, Jessica Ezzell Hunter, Leslie G Biesecker, et al.
Annals of the Rheumatic Diseases|May 17, 2011
Preliminary classification criteria for the cryoglobulinaemic vasculitisS De Vita, F Soldano, M Isola, et al.
Nature Communications|November 19, 2022
PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activationMaria Stahl Madsen, Marjoleine F Broekema, Martin Rønn Madsen, et al.
Biorxiv : the Preprint Server for Biology|November 28, 2023
Increased spatial coupling of integrin and collagen IV in the immunoresistant clear cell renal cell carcinoma tumor microenvironmentAlex C Soupir, Mitchell T Hayes, Taylor C Peak, et al.
Journal of Medical Case Reports|June 14, 2016
A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case reportHéctor M Ramos-Zaldívar, Daniel G Martínez-Irías, Nelson A Espinoza-Moreno, et al.
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