Varaico: Literature-Extracted Genetic Variants

Gene:STAB2
Variant:p.E309*
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STAB2

NM_017564.10:p.E309*

Associated Papers

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

Hjeij R et al.

American Journal of Human Genetics, 2014

25192045 (PubMed )
Supplement: mmc14.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."