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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RHO

Variant:p.L46L

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RHO

NM_000539.3:p.L46L

hg38:chr3:129528869 C>T

Associated Papers

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.

Lin S et al.

Ophthalmology. Retina, 2024

38219857 (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."