Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.D605fs
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IQSEC2

NM_001111125.3:p.D605fs

Associated Papers

IQSEC2-related encephalopathy in male children: Novel mutations and phenotypes.

Liu X et al.

Frontiers in Molecular Neuroscience, 2022

Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.

Wayhelova M et al.

Neurogenetics, 2020

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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."