Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G970delFs
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RPGR

NM_001034853.2:p.G970delFs

Associated Papers

The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).

Zampaglione E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

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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."