Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.V345_G346Splc
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COL1A2

NM_000089.4:p.V345_G346Splc

Associated Papers

Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.

Ward LM et al.

Human Mutation, 2001

Type V osteogenesis imperfecta: a new form of brittle bone disease.

Glorieux FH et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2000

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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."