Varaico: Literature-Extracted Genetic Variants

Gene:LRPPRC
Variant:p.R1044*
Back to variants list

LRPPRC

NM_133259.4:p.R1044*

Associated Papers

A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report.

Muthaffar OY et al.

Frontiers in Pediatrics, 2023

Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French-Canadian Type Outside of Québec.

Han VX et al.

Child Neurology Open, 0

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."