Varaico: Literature-Extracted Genetic Variants

Gene:KCNA3
Variant:p.M1insFs
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KCNA3

NM_002232.5:p.M1insFs

Associated Papers

Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.

Garelli S et al.

Journal of Endocrinological Investigation, 2021

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.

Leegwater PA et al.

American Journal of Human Genetics, 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."