Varaico: Literature-Extracted Genetic Variants

Gene:LRPPRC
Variant:p.Q82Q
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LRPPRC

NM_133259.4:p.Q82Q

Associated Papers

Genetic mutations in lymphocytic variant of hypereosinophilic syndrome: study of five siblings.

Walkenhorst M et al.

Frontiers in Medicine, 2025

41488087 (PubMed )
Supplement: Table_1.xlsx › Data

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_

Uniparental disomy causes deficiencies of vitamin K-dependent proteins.

Dasi MA et al.

Journal of Thrombosis and Haemostasis : Jth, 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."