Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G228insFs
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CFTR

NM_000492.4:p.G228insFs

Associated Papers

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

Bunge S et al.

Human Molecular Genetics, 1994

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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."