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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEP290

Variant:p.G571R

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CEP290

NM_025114.4:p.G571R

hg38:chr12:88118483 C>T

Associated Papers

Exonic splice variant discovery using in vitro models of inherited retinal disease.

Mullin NK et al.

Hgg Advances, 2025

39354715 (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."