Varaico: Literature-Extracted Genetic Variants

Gene:NFIA
Variant:p.R121P
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NFIA

NM_001134673.4:p.R121P

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

Significant phenotypic variability in a multigenerational family with an NFIA missense mutation: Case series and review of the literature.

Paschell P et al.

Clinical Case Reports, 2024

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."