Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.C759F
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PEX1

NM_000466.3:p.C759F

Associated Papers

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Perea-Romero I et al.

Scientific Reports, 2021

33452396 (PubMed )
Supplement: 41598_2021_81093_MOESM1_ESM.docx

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy.

Stanwyck LK et al.

American Journal of Ophthalmology Case Reports, 2019

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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."