Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S45S
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CFTR

NM_000492.4:p.S45S

Associated Papers

Effect of mRNA/tRNA mutations on translation speed: Implications for human diseases.

Davyt M et al.

The Journal of Biological Chemistry, 2023

One-step generation of tumor models by base editor multiplexing in adult stem cell-derived organoids.

Geurts MH et al.

Nature Communications, 2023

Two positively charged amino acid side-chains in the inner vestibule of the CFTR channel pore play analogous roles in controlling anion binding and anion conductance.

Linsdell P et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

29581173 (PubMed )
Supplement: JGP_201711946_TableS1.pdf
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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."