Varaico: Literature-Extracted Genetic Variants

Gene:AQP4
Variant:p.A215T
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AQP4

NM_001650.7:p.A215T

Associated Papers

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

Passchier EMJ et al.

Frontiers in Genetics, 2024

Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.

Passchier EMJ et al.

Brain : a Journal of Neurology, 2023

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › d__Freq_TP093

NPA motifs play a key role in plasma membrane targeting of aquaporin-4.

Guan XG et al.

Iubmb Life, 2010

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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."