Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A5
Variant:p.E1115K
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SLC12A5

NM_001134771.2:p.E1115K

Associated Papers

Novel Homozygous Full Gene Deletion of SLC12A5 in a Newborn With Refractory Seizures.

Wainman LM et al.

American Journal of Medical Genetics. Part A, 2025

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Fernández-Marmiesse A et al.

Frontiers in Neuroscience, 2019

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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."