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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPGR

Variant:p.T434insFs

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RPGR

NM_001034853.2:p.T434insFs

hg38:chrX:38297395 G>GA

Associated Papers

Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss.

German RJ et al.

Molecular Genetics & Genomic Medicine, 2024

38404254 (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."