Varaico: Literature-Extracted Genetic Variants

Gene:APC2
Variant:p.R488H
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APC2

NM_005883.3:p.R488H

Associated Papers

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable4

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

Genetic Disruption of Cilia-Associated Signaling Pathways in Patients with VACTERL Association.

Ritter J et al.

Children (basel, Switzerland), 2023

37238430 (PubMed )
Supplement: children-10-00882-s001.zip › children-2378361-supplementary.pdf
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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."