Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination
Thus, proteoform-based analysis can be a valuable approach for assessing novel variants and complement clinical genomics in its utilization.
Authors
- Vinit B. Mahajan (ORCID: https://orcid.org/0000-0003-1886-1741)
- Young Joo Sun (ORCID: https://orcid.org/0000-0002-8240-7378)
- Jennifer T. Vu
- Alexander G. Bassuk (ORCID: https://orcid.org/0000-0002-4067-2157)
- Joel A. Franco (ORCID: https://orcid.org/0009-0008-8111-6641)
- Aarushi Kumar
- Ditte K. Rasmussen (ORCID: https://orcid.org/0009-0007-0542-5189)
Institutions
- University of Iowa (US)
- Palo Alto University (US)
- Aarhus University (DK)
- VA Palo Alto Health Care System (US)
- Smith-Kettlewell Eye Research Institute (US)
- Stanford University (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-05-30
- DOI
- https://doi.org/10.1186/s13023-025-03792-3
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Research to Prevent Blindness
- BrightFocus Foundation
- VitreoRetinal Surgery Foundation
- Lundbeckfonden
- National Institutes of Health