TYR c.1422C>T ;(p.I474=)

Variant ID: 11-89028366-C-T

NM_000372.4(TYR):c.1422C>T;(p.I474=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density.

Investigative Ophthalmology & Visual Science
Lee, Daniel J DJ; Woertz, Erica N EN; Visotcky, Alexis A; Wilk, Melissa A MA; Heitkotter, Heather H; Linderman, Rachel E RE; Tarima, Sergey S; Summers, C Gail CG; Brooks, Brian P BP; Brilliant, Murray H MH; Antony, Bhavna J BJ; Lujan, Brandon J BJ; Carroll, Joseph J
Publication Date: 2018-11-01

Variant appearance in text: TYR: Ile474Ile
PubMed Link: 30398625
Variant Present in the following documents:
  • Main text
  • i1552-5783-59-13-5336.pdf
View BVdb publication page