Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G778S
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COL1A2

NM_000089.4:p.G778S

Associated Papers

Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.

Yang L et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022

35044492 (PubMed )
Supplement: 198_2021_6263_MOESM3_ESM.xlsx › COL1A2_HGMD_data

Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.

Wang Y et al.

Plos One, 2015

Correction: development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.

Wang Y et al.

Plos One, 2015

The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

Zhang ZL et al.

Journal of Bone and Mineral Metabolism, 2012

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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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."