Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.K113E
Back to variants list

NFIX

NM_001365902.3:p.K113E

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

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Chevarin M et al.

Journal of Medical Genetics, 2020

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."