Varaico: Literature-Extracted Genetic Variants

Gene:PRPF3
Variant:p.K110del1
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PRPF3

NM_004698.4:p.K110del1

Associated Papers

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.

Wheway G et al.

Experimental Eye Research, 2020

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

Martin-Merida I et al.

Investigative Ophthalmology & Visual Science, 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."