F2 c.124C>T ;(p.R42W)

Variant ID: 11-46741296-C-T

NM_000506.3(F2):c.124C>T;(p.R42W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin?

Frontiers In Molecular Biosciences
Ballardin, Demetra D; Cruz-Gamero, Jose M JM; Bienvenu, Thierry T; Rebholz, Heike H
Publication Date: 2022

Variant appearance in text: F2: 124C>T
PubMed Link: 35693553
Variant Present in the following documents:
  • Table2.pdf
View BVdb publication page



Resolving candidate genes of mouse skeletal muscle QTL via RNA-Seq and expression network analyses.

Bmc Genomics
Lionikas, Arimantas A; Meharg, Caroline C; Derry, Jonathan Mj JM; Ratkevicius, Aivaras A; Carroll, Andrew M AM; Vandenbergh, David J DJ; Blizard, David A DA
Publication Date: 2012-11-05

Variant appearance in text: F2: R42W
PubMed Link: 23126637
Variant Present in the following documents:
  • Main text
  • 1471-2164-13-592.pdf
View BVdb publication page