Varaico: Literature-Extracted Genetic Variants

Gene:APC2
Variant:p.D392fs
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APC2

NM_005883.3:p.D392fs

Associated Papers

Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.

Jin L et al.

Seizure, 2024

Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.

Jin L et al.

Seizure, 2023

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Lee S et al.

American Journal of Human 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."