Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.R831Q
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COG1

NM_018714.3:p.R831Q

Associated Papers

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_3_WES_SNV

Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review.

Huang Y et al.

Bmc Pediatrics, 2021

Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Li YY et al.

Nature Communications, 2017

28098136 (PubMed )
Supplement: ncomms14121-s6.xlsx › Primary_Recurrences_or_mets
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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."