Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.Q338*
Back to variants list

NFIX

NM_001365902.3:p.Q338*

Associated Papers

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

Malan syndrome: Extension of genotype and phenotype spectrum.

Rai A et al.

American Journal of Medical Genetics. Part A, 2018

Further delineation of Malan syndrome.

Priolo M et al.

Human Mutation, 2018

Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.

Lu Y et al.

Journal of Pediatric Genetics, 2017

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Klaassens M et al.

European Journal of Human Genetics : Ejhg, 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."