Varaico: Literature-Extracted Genetic Variants

Gene:BLOC1S3
Variant:p.A101insFs
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BLOC1S3

NM_212550.5:p.A101insFs

Associated Papers

Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.

Woertz EN et al.

Investigative Ophthalmology & Visual Science, 2024

38441889 (PubMed )
Supplement: iovs-65-3-3_s001.pdf

Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.

Litts KM et al.

Translational Vision Science & Technology, 2021

34111268 (PubMed )
Supplement: tvst-10-6-22_s007.pdf
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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."