Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E370*
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PRPF31

NM_015629.4:p.E370*

Associated Papers

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table3.XLSX › Sheet1

Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies.

Ben-Avi R et al.

European Journal of Ophthalmology, 2022

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1

The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations.

Ehrenberg M et al.

Molecular Vision, 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."