TYR c.1355T>A ;(p.L452Q)

Variant ID: 11-89018111-T-A

NM_000372.4(TYR):c.1355T>A;(p.L452Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Shark nanobodies with potent SARS-CoV-2 neutralizing activity and broad sarbecovirus reactivity.

Nature Communications
Chen, Wei-Hung WH; Hajduczki, Agnes A; Martinez, Elizabeth J EJ; Bai, Hongjun H; Matz, Hanover H; Hill, Thomas M TM; Lewitus, Eric E; Chang, William C WC; Dawit, Layla L; Peterson, Caroline E CE; Rees, Phyllis A PA; Ajayi, Adelola B AB; Golub, Emily S ES; Swafford, Isabella I; Dussupt, Vincent V; David, Sapna S; Mayer, Sandra V SV; Soman, Sandrine S; Kuklis, Caitlin C; Corbitt, Courtney C; King, Jocelyn J; Choe, Misook M; Sankhala, Rajeshwer S RS; Thomas, Paul V PV; Zemil, Michelle M; Wieczorek, Lindsay L; Hart, Tricia T; Duso, Debora D; Kummer, Larry L; Yan, Lianying L; Sterling, Spencer L SL; Laing, Eric D ED; Broder, Christopher C CC; Williams, Jazmean K JK; Davidson, Edgar E; Doranz, Benjamin J BJ; Krebs, Shelly J SJ; Polonis, Victoria R VR; Paquin-Proulx, Dominic D; Rolland, Morgane M; Reiley, William W WW; Gromowski, Gregory D GD; Modjarrad, Kayvon K; Dooley, Helen H; Joyce, M Gordon MG
Publication Date: 2023-02-03

Variant appearance in text: TYR: L452Q
PubMed Link: 36737435
Variant Present in the following documents:
  • 41467_2023_36106_MOESM1_ESM.pdf
View BVdb publication page



Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Investigative Ophthalmology & Visual Science
Gargiulo, Annagiusi A; Testa, Francesco F; Rossi, Settimio S; Di Iorio, Valentina V; Fecarotta, Simona S; de Berardinis, Teresa T; Iovine, Antonello A; Magli, Adriano A; Signorini, Sabrina S; Fazzi, Elisa E; Galantuomo, Maria Silvana MS; Fossarello, Maurizio M; Montefusco, Sandro S; Ciccodicola, Alfredo A; Neri, Alberto A; Macaluso, Claudio C; Simonelli, Francesca F; Surace, Enrico Maria EM
Publication Date: 2011-03

Variant appearance in text: TYR: 1355T>A
PubMed Link: 20861488
Variant Present in the following documents:
  • Main text
View BVdb publication page