Varaico: Literature-Extracted Genetic Variants

Gene:LRPPRC
Variant:p.K1049insFs
Back to variants list

LRPPRC

NM_133259.4:p.K1049insFs

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_1.pdf

Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.

Olkinuora A et al.

Frontiers in Oncology, 2024

38725616 (PubMed )
Supplement: Table_2.xlsx › Table_S2

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

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Oláhová M et al.

Brain : a Journal of Neurology, 2015

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."