Showing 181 - 200 results of 1,677 for search '"function analysis"', query time: 0.15s Refine Results
  1. 181
  2. 182
  3. 183
  4. 184
  5. 185
  6. 186
  7. 187

    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 2025-05-01
    “…Here, we present clinical features of a novel CNGA3 variant in an achromatopsia patient and demonstrate its pathogenicity by a three-dimensional (3D) proteoform-based structure-function analysis. We first identified six proteotypic groups using 47 pathogenic missense variants with distinctive functional consequences by mapping their spatial proximity in a 3D protein structure. …”
    Get full text
    Article
  8. 188
  9. 189
  10. 190
  11. 191
  12. 192
  13. 193
  14. 194
  15. 195
  16. 196
  17. 197
  18. 198
  19. 199
  20. 200