Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G115E
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COL1A2

NM_000089.4:p.G115E

Associated Papers

Diversity in heritable disorders of connective tissue at a single center.

Hsu RH et al.

Connective Tissue Research, 2021

Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.

Li S et al.

Frontiers in Genetics, 2020

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

Kelley BP et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011

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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."