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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPF6

Variant:p.T743I

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PRPF6

NM_012469.4:p.T743I

hg38:chr20:64027625 C>T

Associated Papers

A New Variant in the PRPF6 Gene Leading to Retinitis Pigmentosa: A Case Report.

Ruiz-Justiz AJ et al.

Cureus, 2023

38074011 (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."