Varaico: Literature-Extracted Genetic Variants

Gene:NDUFV1
Variant:p.E333D
Back to variants list

NDUFV1

NM_007103.4:p.E333D

Associated Papers

The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.

Gripp KW et al.

American Journal of Medical Genetics. Part A, 2016

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."