Publications:

The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.

Molecular Immunology

Geerlings, Maartje J MJ; de Jong, Eiko K EK; den Hollander, Anneke I AI

Publication Date: 2017-04

Variant appearance in text: C3b: Val619Met

PubMed Link: 27939104

Variant Present in the following documents:

• Main text

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

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs146613648

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

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