Varaico: Literature-Extracted Genetic Variants

Gene:COL6A6
Variant:p.R1295*
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COL6A6

NM_001102608.3:p.R1295*

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.

de Voer RM et al.

Plos Genetics, 2016

26901136 (PubMed )
Supplement: pgen.1005880.s003.xlsx › S3_Table

Characterization of Somatic Mutations in Air Pollution-Related Lung Cancer.

Yu XJ et al.

Ebiomedicine, 2015

26288819 (PubMed )
Supplement: mmc5.xlsx › Sheet1
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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."