Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.D330_S333delFs
Back to variants list

NFIX

NM_001365902.3:p.D330_S333delFs

Associated Papers

Malan syndrome: Extension of genotype and phenotype spectrum.

Rai A et al.

American Journal of Medical Genetics. Part A, 2018

Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation.

Aggarwal A et al.

European Journal of Medical Genetics, 2017

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."