Varaico: Literature-Extracted Genetic Variants

Gene:PDZD8
Variant:p.R291Splc
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PDZD8

NM_173791.5:p.R291Splc

Associated Papers

Confirmation of PRDX3 c.568G>C as the Genetic Basis of Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy.

Choo CH et al.

Cornea, 2022

Punctiform and Polychromatic Pre-Descemet Corneal Dystrophy: Clinical Evaluation and Identification of the Genetic Basis.

Alió Del Barrio JL et al.

American Journal of Ophthalmology, 2020

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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."