Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.G760S
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IQSEC2

NM_001111125.3:p.G760S

Associated Papers

Molecular Insights into IQSEC2 Disease.

Levy NS et al.

International Journal of Molecular Sciences, 2023

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Arteche-López A et al.

Genes, 2021

Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Alonso-Gonzalez A et al.

Scientific Reports, 2021

33431980 (PubMed )
Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_1

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

Accogli A et al.

Journal of Genetics, 2020

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."