Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.V345_G346Splc
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COL1A2

NM_000089.4:p.V345_G346Splc

Associated Papers

Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.

Li L et al.

Human Mutation, 2019

Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta.

Li L et al.

Frontiers in Genetics, 2019

[Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta].

Zhao X et al.

Zhonghua Yi Xue Za Zhi, 2015

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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."