Varaico: Literature-Extracted Genetic Variants

Gene:PRDM13
Variant:p.L329L
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PRDM13

NM_021620.4:p.L329L

Associated Papers

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.

Green DJ et al.

Investigative Ophthalmology & Visual Science, 2021

Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.

Ellingford JM et al.

Clinical & Experimental Ophthalmology, 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."