Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ13
Variant:p.E115G
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KCNJ13

NM_002242.4:p.E115G

Associated Papers

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

Sergouniotis PI et al.

American Journal of Human Genetics, 2011

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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."