Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S753R
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CFTR

NM_000492.4:p.S753R

Associated Papers

Current landscape of cystic fibrosis gene therapy.

Plasschaert LW et al.

Frontiers in Pharmacology, 2024

Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.

Feng J et al.

Reproduction (cambridge, England), 2022

Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues.

Pieri Pde C et al.

Clinics (sao Paulo, Brazil), 2007

Influence of phosphorylation by protein kinase A on CFTR at the cell surface and endoplasmic reticulum.

Seibert FS et al.

Biochimica Et Biophysica Acta, 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."