SLC45A2 c.910A>G ;(p.K304E)

Variant ID: 5-33954588-T-C

NM_016180.3(SLC45A2):c.910A>G;(p.K304E)

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: SLC45A2: 910A>G
PubMed Link: 30398625
Variant Present in the following documents:
  • Main text
View BVdb publication page