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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RHO

Variant:p.Q344Q

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RHO

NM_000539.3:p.Q344Q

hg38:chr3:129533703 G>A

Associated Papers

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.

Kaukonen M et al.

Genes, 2022

35893064 (PubMed )

Supplement: genes-13-01327-s001.zip › Table_S3_gnomAD.xlsx › gnomAD_2022-04-19

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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."