Varaico: Literature-Extracted Genetic Variants

Gene:COL6A6
Variant:p.R906C
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COL6A6

NM_001102608.3:p.R906C

Associated Papers

Whole exome sequencing of 80 cases of sporadic mitral valve prolapse reveals novel disease-associated genes and variants in a Southern Chinese population.

Wang Q et al.

Genes & Genomics, 2025

Malignant transformation and genetic alterations are uncoupled in early colorectal cancer progression.

Mamlouk S et al.

Bmc Biology, 2020

32895052 (PubMed )
Supplement: 12915_2020_844_MOESM4_ESM.xlsx › AC33_public

Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population.

Liang C et al.

Journal of Orthopaedic Surgery and Research, 2018

Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing.

Heo WI et al.

Bmc Medical Genetics, 2017

Multiple region whole-exome sequencing reveals dramatically evolving intratumor genomic heterogeneity in esophageal squamous cell carcinoma.

Cao W et al.

Oncogenesis, 2015

26619400 (PubMed )
Supplement: oncsis201534x3.xls › PtA_nonsilmut_noreapt.txt
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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."