Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S176_I177insFs
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CFTR

NM_000492.4:p.S176_I177insFs

Associated Papers

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

Maceratesi P et al.

Human Mutation, 1996

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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."