Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R170insFs
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CFTR

NM_000492.4:p.R170insFs

Associated Papers

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

Denoyelle F et al.

Lancet (london, England), 1999

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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."