Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.N706S
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IQSEC2

NM_001111125.3:p.N706S

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_S1_missense.pdf

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

Radley JA et al.

Clinical 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."