Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G334C
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COL1A2

NM_000089.4:p.G334C

Associated Papers

Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.

Chen P et al.

Orphanet Journal of Rare Diseases, 2023

37730650 (PubMed )
Supplement: 13023_2023_2906_MOESM2_ESM.xlsx › Sheet1
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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."