Varaico: Literature-Extracted Genetic Variants

Gene:HLA-A
Variant:p.D126H
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HLA-A

NM_002116.8:p.D126H

Associated Papers

Birdshot Chorioretinopathy: A Review.

Bousquet E et al.

Journal of Clinical Medicine, 2022

Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.

Hu B et al.

Frontiers in Oncology, 2021

34434896 (PubMed )
Supplement: DataSheet_5.xlsx › All.final.xls.sed

Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.

Yang D et al.

Frontiers in Genetics, 2021

34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1

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

HLA-A29 and birdshot chorioretinopathy.

Brézin AP et al.

Ocular Immunology and Inflammation, 2011

Different HLA class IA region complotypes for HLA-A29.2 and -A29.1 antigens, identical in birdshot retinochoroidopathy patients or healthy individuals.

Donvito B et al.

Investigative Ophthalmology & Visual Science, 2005

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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."