Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.A228P
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PRPF31

NM_015629.4:p.A228P

Associated Papers

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Zenteno JC et al.

Molecular Genetics & Genomic Medicine, 2020

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

van Huet RA et al.

Molecular Vision, 2015

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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."