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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOSC3

Variant:p.V112L

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EXOSC3

NM_016042.4:p.V112L

hg38:chr9:37784054 C>A

Associated Papers

Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.

Lo JE et al.

Translational Vision Science & Technology, 2022

35816039 (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."