Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.G842fs
Back to variants list

COL1A1

NM_000088.4:p.G842fs

Associated Papers

Restoration of Osteogenesis by CRISPR/Cas9 Genome Editing of the Mutated COL1A1 Gene in Osteogenesis Imperfecta.

Jung H et al.

Journal of Clinical Medicine, 2021

Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.

Zhytnik L et al.

Clinical and Translational Science, 2020

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.

Zhytnik L et al.

Frontiers in Genetics, 2019

Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.

Ho Duy B et al.

Human Genomics, 2016

Nonsense-mediated mRNA decay of collagen -emerging complexity in RNA surveillance mechanisms.

Fang Y et al.

Journal of Cell Science, 2013

Osteogenesis imperfecta in Brazilian patients.

Trancozo M et al.

Genetics and Molecular Biology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."