Varaico: Literature-Extracted Genetic Variants

Gene:NR2F1
Variant:p.F110C
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NR2F1

NM_005654.6:p.F110C

Associated Papers

Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.

Liang Y et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2024

Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.

Demarest S et al.

Developmental Medicine and Child Neurology, 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."