Varaico: Literature-Extracted Genetic Variants

Gene:NFIX
Variant:p.R54P
Back to variants list

NFIX

NM_001365902.3:p.R54P

Associated Papers

Further delineation of Malan syndrome.

Priolo M et al.

Human Mutation, 2018

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

Martinez F et al.

Pediatric Research, 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."