Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.R116G
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NFIX

NM_001365902.3:p.R116G

Associated Papers

Biochemical and structural studies of NFIA and NFIC reveal a conserved mechanism for specific DNA recognition and provide insight into potential pathogenicity of disease-associated mutations.

Pan S et al.

Acta Biochimica Et Biophysica Sinica, 2025

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Schanze I et al.

American Journal of Human Genetics, 2018

Further delineation of Malan syndrome.

Priolo M et al.

Human Mutation, 2018

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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."