Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.R116P
Back to variants list

NFIX

NM_001365902.3:p.R116P

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

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.

Alfieri P et al.

Journal of Clinical Medicine, 2022

35887841 (PubMed )
Supplement: jcm-11-04078-s001.zip › jcm-1734309-supplementary.pdf

A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.

Macchiaiolo M et al.

Orphanet Journal of Rare Diseases, 2022

Further delineation of Malan syndrome.

Priolo M et al.

Human Mutation, 2018

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.

Gurrieri F et al.

European Journal of Medical Genetics, 2015

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."