Varaico: Literature-Extracted Genetic Variants

Gene:MPEG1
Variant:p.R55W
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MPEG1

NM_001039396.2:p.R55W

Associated Papers

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Grossi A et al.

International Journal of Molecular Sciences, 2025

40725177 (PubMed )
Supplement: ijms-26-06929-s001.zip › ijms-3724192-supplementary.xlsx › Supplementary_Table_2_

Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.

Jacinto JGP et al.

Scientific Reports, 2024

Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.

Batu ED et al.

The Journal of Rheumatology, 2018

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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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."