Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis
Author:
Affiliation:
1. Retina Division, Ocular Genetics Services, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
Publisher
Informa UK Limited
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2352377
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5. A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
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