Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A9
Variant:p.R575W
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SLC26A9

NM_052934.4:p.R575W

Associated Papers

The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation.

Luo S et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Structural insights into the gating mechanism of human SLC26A9 mediated by its C-terminal sequence.

Chi X et al.

Cell Discovery, 2020

SLC26A9 Gene Is Associated With Lung Function Response to Ivacaftor in Patients With Cystic Fibrosis.

Corvol H et al.

Frontiers in Pharmacology, 2018

Characterization of SLC26A9 in patients with CF-like lung disease.

Bakouh N et al.

Human Mutation, 2013

Functional analysis of nonsynonymous single nucleotide polymorphisms in human SLC26A9.

Chen AP et al.

Human Mutation, 2012

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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."