Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ13
Variant:p.Q141*
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KCNJ13

NM_002242.4:p.Q141*

Associated Papers

Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.

Galieva A et al.

International Journal of Molecular Sciences, 2025

Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.

Yücel-Yılmaz D et al.

Dna and Cell Biology, 2014

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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."