Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.Y519fs
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IQSEC2

NM_001111125.3:p.Y519fs

Associated Papers

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females.

Jackson MR et al.

Life Science Alliance, 2019

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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."