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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPGR

Variant:p.E762delFs

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RPGR

NM_001034853.2:p.E762delFs

hg38:chrX:38286714 TC>T

Associated Papers

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )

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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."