Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.G257E
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COL1A1

NM_000088.4:p.G257E

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

Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system.

Li LJ et al.

Chinese Medical Journal, 2019

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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."