Varaico: Literature-Extracted Genetic Variants

Gene:IMPG1
Variant:p.L649F
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IMPG1

NM_001563.4:p.L649F

Associated Papers

Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.

Wąsowska A et al.

Genes, 2023

37761846 (PubMed )
Supplement: genes-14-01707-s001.zip › genes-2482546-supplementary › Supplementary_Table_S1.xlsx › Rare_variants

A Case Report of Pseudoxanthoma Elasticum with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases.

Lofaro FD et al.

Diagnostics (basel, Switzerland), 2021

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

Kersten E et al.

Clinical Genetics, 2018

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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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."