Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E926fs
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RPGR

NM_001034853.2:p.E926fs

Associated Papers

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.

Zhu J et al.

Genes, 2022

35456422 (PubMed )
Supplement: genes-13-00615-s001.zip › genes-1600529-supplementary.pdf

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.

Stephenson KAJ et al.

International Journal of Molecular Sciences, 2022

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