Varaico: Literature-Extracted Genetic Variants

Gene:NFE2L1
Variant:p.D685H
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NFE2L1

NM_003204.3:p.D685H

Associated Papers

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

de Kovel CG et al.

Molecular Genetics & Genomic Medicine, 2016

27652284 (PubMed )
Supplement: MGG3-4-568-s002.xlsx › variant_overview
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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."