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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AQP4

Variant:p.E288D

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AQP4

NM_001650.7:p.E288D

hg38:chr18:26856319 C>A

Associated Papers

Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.

Sartorelli J et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

41483250 (PubMed )

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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."