Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.V334_F345delFs
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IQSEC2

NM_001111125.3:p.V334_F345delFs

Associated Papers

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

Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.

Accogli A et al.

Journal of Genetics, 2020

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.

Shoubridge C et al.

Human Mutation, 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."