Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.S263S
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PRPF31

NM_015629.4:p.S263S

Associated Papers

Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.

Green DJ et al.

Genes, 2020

32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

Bravo-Gil N et al.

Scientific Reports, 2017

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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."