Varaico: Literature-Extracted Genetic Variants

Gene:C1QBP
Variant:p.T130M
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C1QBP

NM_001212.4:p.T130M

Associated Papers

Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.

Ballonová L et al.

Frontiers in Genetics, 2023

37470035 (PubMed )
Supplement: Table1.XLSX › Table_S3_Deleterious_gene_varia

Heterozygous P32/C1QBP/HABP1 Polymorphism rs56014026 Reduces Mitochondrial Oxidative Phosphorylation and Is Expressed in Low-grade Colorectal Carcinomas.

Raschdorf A et al.

Frontiers in Oncology, 2020

Genomic analysis reveals recurrent deletion of JAK-STAT signaling inhibitors HNRNPK and SOCS1 in mycosis fungoides.

Bastidas Torres AN et al.

Genes, Chromosomes & Cancer, 2018

30144205 (PubMed )
Supplement: GCC-57-653-s002.xlsx › 12

Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.

Duvvari MR et al.

Plos One, 2016

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC8_ERR166330
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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."