Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q1476_D1477insFs
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CFTR

NM_000492.4:p.Q1476_D1477insFs

Associated Papers

Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutation.

Epaud R et al.

Clinical Genetics, 2005

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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."