HP c.943_944delinsAC ;(p.G315T)

Variant ID: 16-72094511-GG-AC

NM_005143.3(HP):c.943_944delinsAC;(p.G315T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.

Human Molecular Genetics
Robertson, Nahid G NG; Jones, Sherri M SM; Sivakumaran, Theru A TA; Giersch, Anne B S AB; Jurado, Sara A SA; Call, Linda M LM; Miller, Constance E CE; Maison, Stéphane F SF; Liberman, M Charles MC; Morton, Cynthia C CC
Publication Date: 2008-11-01

Variant appearance in text: HP: G315T
PubMed Link: 18697796
Variant Present in the following documents:
  • Main text
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