Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R4
Variant:p.L1224R
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PIK3R4

NM_014602.3:p.L1224R

Associated Papers

Autophagy deficiency in neurodevelopmental disorders.

Deng Z et al.

Cell & Bioscience, 2021

Mendelian neurodegenerative disease genes involved in autophagy.

Stamatakou E et al.

Cell Discovery, 2020

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

Gstrein T et al.

Nature Neuroscience, 2018

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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."