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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RIMS1

Variant:p.E848_I849Splc

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RIMS1

NM_014989.7:p.E848_I849Splc

hg38:chr6:72251096 A>G

Associated Papers

Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.

Rodriguez-Muñoz A et al.

Scientific Reports, 2022

34996991 (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."