Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.R128Q
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NFIX

NM_001365902.3:p.R128Q

Associated Papers

Structural basis of Nuclear Factor 1-X DNA recognition provides prototypic insight into the NFI family.

Tiberi M et al.

Nature Communications, 2025

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Schanze I et al.

American Journal of Human Genetics, 2018

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Tatton-Brown K et al.

American Journal of Human Genetics, 2017

28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
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