DNAH11 c.13333dup ;(p.I4445Nfs*3)

Variant ID: 7-21940653-C-CA

NM_001277115.1(DNAH11):c.13333dup;(p.I4445Nfs*3)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

Thorax
Knowles, Michael R MR; Leigh, Margaret W MW; Carson, Johnny L JL; Davis, Stephanie D SD; Dell, Sharon D SD; Ferkol, Thomas W TW; Olivier, Kenneth N KN; Sagel, Scott D SD; Rosenfeld, Margaret M; Burns, Kimberlie A KA; Minnix, Susan L SL; Armstrong, Michael C MC; Lori, Adriana A; Hazucha, Milan J MJ; Loges, Niki T NT; Olbrich, Heike H; Becker-Heck, Anita A; Schmidts, Miriam M; Werner, Claudius C; Omran, Heymut H; Zariwala, Maimoona A MA; ,
Publication Date: 2012-05

Variant appearance in text: DNAH11: I4445NfsX3
PubMed Link: 22184204
Variant Present in the following documents:
  • Main text
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