Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.I230S
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BEST1

NM_004183.4:p.I230S

Associated Papers

Clinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy.

Battaglia Parodi M et al.

Translational Vision Science & Technology, 2022

Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography.

Battaglia Parodi M et al.

American Journal of Ophthalmology, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."