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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF31

Variant:p.K315_V316Splc

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PRPF31

NM_015629.4:p.K315_V316Splc

hg38:chr19:54126618 G>A

Associated Papers

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Wang X et al.

Bmc Ophthalmology, 2017

28838317 (PubMed )

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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."