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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF31

Variant:p.E106*

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PRPF31

NM_015629.4:p.E106*

hg38:chr19:54121937 G>T

Associated Papers

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.

Numa S et al.

Scientific Reports, 2020

33247286 (PubMed )

Supplement: 41598_2020_77558_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."