Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.M2549_Q2554delFs
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USH2A

NM_206933.4:p.M2549_Q2554delFs

Associated Papers

Investigating Biomarkers for USH2A Retinopathy Using Multimodal Retinal Imaging.

Gill JS et al.

International Journal of Molecular Sciences, 2022

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.

Toms M et al.

Human Molecular Genetics, 2020

31998945 (PubMed )
Supplement: toms_et_al_supplementary_material_ddaa004.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."