Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.R121C
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NFIX

NM_001365902.3:p.R121C

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

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.

Tooze RS et al.

Genes, 2023

36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf

De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.

Timberlake AT et al.

Human Genetics, 2023

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