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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF3

Variant:p.E336G

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PRPF3

NM_004698.4:p.E336G

hg38:chr1:150335213 A>G

Associated Papers

Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Jauregui R et al.

Scientific Reports, 2020

32098976 (PubMed )

Supplement: 41598_2020_60137_MOESM1_ESM.pdf

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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."