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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPGRIP1

Variant:p.S384Splc

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RPGRIP1

NM_020366.4:p.S384Splc

hg38:chr14:21312507 G>A

Associated Papers

Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort.

Mao Y et al.

Journal of Ophthalmology, 2021

34796026 (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."