Varaico: Literature-Extracted Genetic Variants

Gene:NR2F1
Variant:p.R373_P375del0
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NR2F1

NM_005654.6:p.R373_P375del0

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

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.

Bertacchi M et al.

Cells, 2022

35455940 (PubMed )
Supplement: cells-11-01260-s001.zip › cells-1604531-supplementary.pdf

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

Jurkute N et al.

Brain Communications, 2021

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