Varaico: Literature-Extracted Genetic Variants

Gene:NR2F1
Variant:p.N362fs
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NR2F1

NM_005654.6:p.N362fs

Associated Papers

Disrupted protein interaction dynamics in a genetic neurodevelopmental disorder revealed by structural bioinformatics and genetic code expansion.

Marino V et al.

Protein Science : a Publication of the Protein Society, 2024

Effective treatment of NR2F1-related epilepsy with perampanel.

Li X et al.

Acta Epileptologica, 2024

A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review.

Sun Y et al.

Medicine, 2022

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.

Bertacchi M et al.

Cells, 2022

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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."