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SLC45A2 c.443G>A ;(p.G148D)
Variant ID: 5-33982460-C-T
NM_016180.3(
SLC45A2
):c.443G>A;(p.G148D)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: 443G>A
PubMed Link:
30398625
Variant Present in the following documents:
Main text
i1552-5783-59-13-5336.pdf
View BVdb publication page