Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1
Variant:p.E789_F790Splc
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RPGRIP1

NM_020366.4:p.E789_F790Splc

Associated Papers

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

Barberán-Martínez P et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.

Qian X et al.

Frontiers in Genetics, 2021

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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."