Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A5
Variant:p.N328S
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SLC12A5

NM_020708.5:p.N328S

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

Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.

Haviland I et al.

Pediatric Neurology, 2023

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes
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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."