Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.A847T
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COL1A1

NM_000088.4:p.A847T

Associated Papers

Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.

Zhou W et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

37076969 (PubMed )
Supplement: JBMR-38-896-s002.xlsx › S.Table4

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.

Sałacińska K et al.

Frontiers in Endocrinology, 2023

37810882 (PubMed )
Supplement: Table_1.xlsx › supplementary_materials

Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions.

Sałacińska K et al.

Frontiers in Genetics, 2021

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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."