Varaico: Literature-Extracted Genetic Variants

Gene:PEX5L
Variant:p.F173C
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PEX5L

NM_001349404.2:p.F173C

Associated Papers

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma.

Shah MH et al.

Indian Journal of Ophthalmology, 2021

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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."