Varaico: Literature-Extracted Genetic Variants

Gene:PRPF6
Variant:p.K938E
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PRPF6

NM_012469.4:p.K938E

Associated Papers

Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies.

Iancu IF et al.

Npj Genomic Medicine, 2021

33623043 (PubMed )
Supplement: 41525_2021_182_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."