Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ13
Variant:p.F168L
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KCNJ13

NM_002242.4:p.F168L

Associated Papers

Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.

Xu P et al.

Journal of Translational Medicine, 2024

Metabolism in the Zebrafish Retina.

Jaroszynska N et al.

Journal of Developmental Biology, 2021

Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.

Toms M et al.

Experimental Eye Research, 2019

Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy.

Toms M et al.

Scientific Reports, 2019

Inwardly rectifying potassium channels: their structure, function, and physiological roles.

Hibino H et al.

Physiological Reviews, 2010

Pigment pattern in jaguar/obelix zebrafish is caused by a Kir7.1 mutation: implications for the regulation of melanosome movement.

Iwashita M et al.

Plos Genetics, 2006

Requirement of multiple protein domains and residues for gating K(ATP) channels by intracellular pH.

Piao H et al.

The Journal of Biological Chemistry, 2001

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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."