Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G91_E92Splc
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CFTR

NM_000492.4:p.G91_E92Splc

Associated Papers

Differential effects of ELX/TEZ/IVA on organ-specific CFTR function in two patients with the rare CFTR splice mutations c.273+1G>A and c.165-2A>G.

Pallenberg ST et al.

Frontiers in Pharmacology, 2023

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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."