Publications:

Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.

The Journal Of Biological Chemistry

Li, Chaoyi C; Chen, Qian Q; Wu, Junjiao J; Ren, Jie J; Zhang, Mengfei M; Wang, Huakun H; Li, Jinchen J; Tang, Yu Y

Publication Date: 2022-05

Variant appearance in text: OCA1: 26T>C

PubMed Link: 35413289

Variant Present in the following documents:

• Main text
• main.pdf

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Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.

Translational Vision Science & Technology

Litts, Katie M KM; Woertz, Erica N EN; Wynne, Niamh N; Brooks, Brian P BP; Chacon, Alicia A; Connor, Thomas B TB; Costakos, Deborah D; Dumitrescu, Alina A; Drack, Arlene V AV; Fishman, Gerald A GA; Hauswirth, William W WW; Kay, Christine N CN; Lam, Byron L BL; Michaelides, Michel M; Pennesi, Mark E ME; Stepien, Kimberly E KE; Strul, Sasha S; Summers, C Gail CG; Carroll, Joseph J

Publication Date: 2021-05-03

Variant appearance in text: TYR: 26T>C; L9P

PubMed Link: 34111268

Variant Present in the following documents:

• tvst-10-6-22_s007.pdf

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