Varaico: Literature-Extracted Genetic Variants

Gene:AGAP6
Variant:p.E53_V54insC
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AGAP6

NM_001077665.3:p.E53_V54insC

Associated Papers

β-catenin mediates growth defects induced by centrosome loss in a subset of APC mutant colorectal cancer independently of p53.

Bourmoum M et al.

Plos One, 2024

38324534 (PubMed )
Supplement: pone.0295030.s003.xlsx › 3samples.exome.dp5.snvindel

Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation.

Serajee FJ et al.

Pediatric Neurology, 2015

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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."