Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.R661H
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IMPG1

NM_001563.4:p.R661H

Associated Papers

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.

Olivier G et al.

Journal of Medical Genetics, 2021

Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.

Kersten E et al.

Clinical Genetics, 2018

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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."