Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S313_G314insFs
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CFTR

NM_000492.4:p.S313_G314insFs

Associated Papers

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Le Saux O et al.

American Journal of Human Genetics, 2001

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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."