Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.E473*
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IQSEC2

NM_001111125.3:p.E473*

Associated Papers

[Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability].

Li Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024

Molecular Insights into IQSEC2 Disease.

Levy NS et al.

International Journal of Molecular Sciences, 2023

36902414 (PubMed )
Supplement: ijms-24-04984-s001.zip › Table_S2_non_missense.pdf

[Genotypes and phenotypes of IQSEC2 gene variants related epilepsy].

Wang DH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022

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

Liu X et al.

Frontiers in Molecular Neuroscience, 2022

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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."