Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.P67T
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CFTR

NM_000492.4:p.P67T

Associated Papers

The deviant ATP-binding site of the multidrug efflux pump Pdr5 plays an active role in the transport cycle.

Furman C et al.

The Journal of Biological Chemistry, 2013

Interaction with polyglutamine-expanded huntingtin alters cellular distribution and RNA processing of huntingtin yeast two-hybrid protein A (HYPA).

Jiang YJ et al.

The Journal of Biological Chemistry, 2011

Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease.

Ulloa-Aguirre A et al.

Traffic (copenhagen, Denmark), 2004

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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."