F2 c.1000_1001delinsTA ;(p.A334*)

Variant ID: 11-46748173-GC-TA

NM_000506.3(F2):c.1000_1001delinsTA;(p.A334*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.

Plos Genetics
Lewis, Wesley R WR; Malarkey, Erik B EB; Tritschler, Douglas D; Bower, Raqual R; Pasek, Raymond C RC; Porath, Jonathan D JD; Birket, Susan E SE; Saunier, Sophie S; Antignac, Corinne C; Knowles, Michael R MR; Leigh, Margaret W MW; Zariwala, Maimoona A MA; Challa, Anil K AK; Kesterson, Robert A RA; Rowe, Steven M SM; Drummond, Iain A IA; Parant, John M JM; Hildebrandt, Friedhelm F; Porter, Mary E ME; Yoder, Bradley K BK; Berbari, Nicolas F NF
Publication Date: 2016-07

Variant appearance in text: F2: A334*
PubMed Link: 27472056
Variant Present in the following documents:
  • Main text
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