Publications:

Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: COL6A2: R867Q

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 36

View BVdb publication page

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: COL6A2: R867Q; rs61735831

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

Annals Of Neurology

Pace, Rishika A RA; Peat, Rachel A RA; Baker, Naomi L NL; Zamurs, Laura L; Mörgelin, Matthias M; Irving, Melita M; Adams, Naomi E NE; Bateman, John F JF; Mowat, David D; Smith, Nicholas J C NJ; Lamont, Phillipa J PJ; Moore, Steven A SA; Mathews, Katherine D KD; North, Kathryn N KN; Lamandé, Shireen R SR

Publication Date: 2008-09

Variant appearance in text: COL6A2: R867Q

PubMed Link: 18825676

Variant Present in the following documents:

• Main text

View BVdb publication page