Varaico: Literature-Extracted Genetic Variants

Gene:KCNG1
Variant:p.R47Q
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KCNG1

NM_002237.4:p.R47Q

Associated Papers

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Sklenar M et al.

Molecular Medicine (cambridge, Mass.), 2025

40426046 (PubMed )
Supplement: 10020_2025_1262_MOESM1_ESM.docx

Single-residue changes in the C-terminal disulfide-bonded loop of the Pseudomonas aeruginosa type IV pilin influence pilus assembly and twitching motility.

Harvey H et al.

Journal of Bacteriology, 2009

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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."