Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K329E
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CFTR

NM_000492.4:p.K329E

Associated Papers

Expanded newborn screening in Greece: 30 months of experience.

Loukas YL et al.

Journal of Inherited Metabolic Disease, 2010

Identification of positive charges situated at the outer mouth of the CFTR chloride channel pore.

Zhou JJ et al.

Pflugers Archiv : European Journal of Physiology, 2008

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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."