Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.R123W
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NFIX

NM_001271043.2:p.R123W

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

Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.

Lourdes VH et al.

Frontiers in Pediatrics, 2023

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Mulder PA et al.

Journal of Intellectual Disability Research : Jidr, 2020

Further delineation of Malan syndrome.

Priolo M et al.

Human Mutation, 2018

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.

Jezela-Stanek A et al.

Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2016

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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."