Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.R1069Q
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IQSEC2

NM_001111125.3:p.R1069Q

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

IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domain.

Shoubridge C et al.

Clinical Genetics, 2022

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