Varaico: Literature-Extracted Genetic Variants

Gene:GLI3
Variant:p.D1095N
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GLI3

NM_000168.6:p.D1095N

Associated Papers

A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy.

Ygberg S et al.

The Journal of Biological Chemistry, 2021

34717959 (PubMed )
Supplement: mmc1.pdf
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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."