Varaico: Literature-Extracted Genetic Variants

Gene:RMND1
Variant:p.E277fs
Back to variants list

RMND1

NM_017909.4:p.E277fs

Associated Papers

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

Ng YS et al.

Journal of Medical Genetics, 2016

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.

Gupta A et al.

Bmc Research Notes, 2016

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW et al.

Jama, 2014

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."