Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.Q156*
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PRPF31

NM_015629.4:p.Q156*

Associated Papers

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.

Xiao T et al.

Frontiers in Cell and Developmental Biology, 2020

33598457 (PubMed )
Supplement: Data_Sheet_1.XLSX › sheet_1

Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.

Tajiguli A et al.

Scientific Reports, 2016

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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."