Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.G311R
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COL1A1

NM_000088.4:p.G311R

Associated Papers

Sequence diversity lost in early pregnancy.

Arnadottir GA et al.

Nature, 2025

40399685 (PubMed )
Supplement: 41586_2025_9031_MOESM4_ESM.xlsx › Supp.Table.4

Galunisertib downregulates mutant type I collagen expression and promotes MSCs osteogenesis in pediatric osteogenesis imperfecta.

Infante A et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2024

Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.

Yang L et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022

35044492 (PubMed )
Supplement: 198_2021_6263_MOESM2_ESM.xlsx › COL1A1_HGMD_data

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

Ward LM et al.

Human Mutation, 2001

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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."