RUNX2 c.424_425delinsCA ;(p.V142Q)

Variant ID: 6-45399600-GT-CA

NM_001024630.3(RUNX2):c.424_425delinsCA;(p.V142Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Noddy, a mouse harboring a missense mutation in protocadherin-15, reveals the impact of disrupting a critical interaction site between tip-link cadherins in inner ear hair cells.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Geng, Ruishuang R; Sotomayor, Marcos M; Kinder, Kimberly J KJ; Gopal, Suhasini R SR; Gerka-Stuyt, John J; Chen, Daniel H-C DH; Hardisty-Hughes, Rachel E RE; Ball, Greg G; Parker, Andy A; Gaudet, Rachelle R; Furness, David D; Brown, Steve D SD; Corey, David P DP; Alagramam, Kumar N KN
Publication Date: 2013-03-06

Variant appearance in text: CCD: V142Q
PubMed Link: 23467356
Variant Present in the following documents:
  • Main text
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