Varaico: Literature-Extracted Genetic Variants

Gene:NFIA
Variant:p.E51fs
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NFIA

NM_001134673.4:p.E51fs

Associated Papers

Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.

Sabau IM et al.

International Journal of Molecular Sciences, 2025

40429983 (PubMed )
Supplement: ijms-26-04843-s001.zip › positive_Supplementary.xlsx › Causative_variants
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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."