Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.N306D
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CFTR

NM_000492.4:p.N306D

Associated Papers

Structural mechanisms for defective CFTR gating caused by the Q1412X mutation, a severe Class VI pathogenic mutation in cystic fibrosis.

Yeh JT et al.

The Journal of Physiology, 2019

CFTR gating: Invisible transitions made visible.

Csanády L

The Journal of General Physiology, 2017

Electrostatic tuning of the pre- and post-hydrolytic open states in CFTR.

Zhang J et al.

The Journal of General Physiology, 2017

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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."