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    Chapter and Conference Paper

    Integrating Computational Approaches to Predict the Effect of Genetic Variants on Protein Stability in Retinal Degenerative Disease

    Protein function can be impacted by changes in protein structure stability, but determining which change has impact is complex. Stability can be affected by a large change in the tertiary (3D) structure of the...

    Michelle Grunin, Ellen Palmer, Sarah de Jong… in Retinal Degenerative Diseases XIX (2023)

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    Chapter and Conference Paper

    The Power of Homozygosity Map**: Discovery of New Genetic Defects in Patients with Retinal Dystrophy

    Retinal dystrophies (RD) represent a group of inherited ophthalmic diseases, which are characterized by dysfunction or progressive loss of photoreceptor cells, often accompanied by fundus abnormalities. To date, ...

    Karin W. Littink, Anneke I. den Hollander… in Retinal Degenerative Diseases (2012)