TYR c.1113T>C ;(p.N371=)

Variant ID: 11-88961067-T-C

NM_000372.4(TYR):c.1113T>C;(p.N371=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Journal Of Clinical Laboratory Analysis
Thuong, Ma Thi Huyen MTH; Anh, Luong Thi Lan LTL; Nhung, Vu Phuong VP; Ngoc, Tran Thi Bich TTB; Lan, Hoang Thu HT; Phuong, Doan Kim DK; Ha, Nguyen Hai NH; Van Hai, Nong N; Ton, Nguyen Dang ND
Publication Date: 2022-09

Variant appearance in text: TYR: 1113T>C
PubMed Link: 35870188
Variant Present in the following documents:
  • JCLA-36-e24625.pdf
View BVdb publication page



Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.

Molecular Vision
Preising, Markus N MN; Forster, Hedwig H; Gonser, Miriam M; Lorenz, Birgit B
Publication Date: 2011-04-15

Variant appearance in text: TYR: 1113T>C
PubMed Link: 21541274
Variant Present in the following documents:
  • Main text
  • mv-v17-939.pdf
View BVdb publication page