Varaico: Literature-Extracted Genetic Variants

Gene:LRPPRC
Variant:p.T385_P386Splc
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LRPPRC

NM_133259.4:p.T385_P386Splc

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

Parkinson's disease-related gene variants influence pre-mRNA splicing processes.

Gaweda-Walerych K et al.

Neurobiology of Aging, 2016

PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1.

Rakovic A et al.

Parkinson's Disease, 2011

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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."