Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.Q458_G459Splc
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PRPF31

NM_015629.4:p.Q458_G459Splc

Associated Papers

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

Daich Varela M et al.

Human Molecular Genetics, 2023

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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."