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Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination by Ditte K. Rasmussen, Young Joo Sun, Joel A. Franco, Aarushi Kumar, Jennifer T. Vu, Alexander G. Bassuk, Vinit B. Mahajan
Published 2025-05-01Get full text
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Enhanced genotype-phenotype analysis using multimodal adaptive optics and 3D protein structure in Bietti Crystalline Dystrophy by Aarushi Kumar, Young Joo Sun, Ditte K. Rasmussen, Aubrey Hargrave, Claudia Phillips, Jennifer T. Vu, Mauricio G.S. Costa, Loh-Shan B. Leung, Charles Yu, Alfredo Dubra, Vinit B. Mahajan
Published 2025-06-01Get full text
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