Varaico: Literature-Extracted Genetic Variants

Gene:LRPPRC
Variant:p.N418T
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LRPPRC

NM_133259.4:p.N418T

Associated Papers

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Lenz D et al.

Hepatology (baltimore, Md.), 2024

37976411 (PubMed )
Supplement: hep-79-1075-s005.xlsx › Sup_Table_4

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

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Kohda M et al.

Plos Genetics, 2016

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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."