Varaico: Literature-Extracted Genetic Variants

Gene:LRPPRC
Variant:p.T478A
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LRPPRC

NM_133259.4:p.T478A

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Wang W et al.

Nucleic Acids Research, 2011

20843780 (PubMed )
Supplement: supp_gkq750_NAR-WangWetal-SuppTable-6.xls › gene_snp_analysis4
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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."