F2 c.1669G>A ;(p.E557K)

Variant ID: 11-46760612-G-A

NM_000506.3(F2):c.1669G>A;(p.E557K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.

Investigative Ophthalmology & Visual Science
Jiang, Yi Y; Zhou, Lin L; Wang, Yingwei Y; Ouyang, Jiamin J; Li, Shiqiang S; Xiao, Xueshan X; Jia, Xiaoyun X; Wang, Junwen J; Yi, Zhen Z; Sun, Wenmin W; Jiao, Xiaodong X; Wang, Panfeng P; Hejtmancik, J Fielding JF; Zhang, Qingjiong Q
Publication Date: 2023-03-01

Variant appearance in text: F2: 1669G>A; Glu557Lys
PubMed Link: 36917121
Variant Present in the following documents:
  • Main text
  • iovs-64-3-24.pdf
View BVdb publication page



Genetic analysis reveals candidate genes for activity QTL in the blind Mexican tetra, Astyanax mexicanus.

Peerj
Carlson, Brian M BM; Klingler, Ian B IB; Meyer, Bradley J BJ; Gross, Joshua B JB
Publication Date: 2018

Variant appearance in text: F2: Glu557Lys
PubMed Link: 30042884
Variant Present in the following documents:
  • Main text
  • peerj-06-5189.pdf
View BVdb publication page