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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF6

Variant:p.E767fs

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PRPF6

NM_012469.4:p.E767fs

hg38:chr20:64027696 GAA>N

Associated Papers

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy.

Stanwyck LK et al.

American Journal of Ophthalmology Case Reports, 2019

31193260 (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."