Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.W1141C
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RPGR

NM_001034853.2:p.W1141C

Associated Papers

Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.

Bonetti G et al.

International Journal of Molecular Sciences, 2023

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Cremers FPM et al.

Progress in Retinal and Eye Research, 2020

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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."