Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.G779S
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COL1A1

NM_000088.4:p.G779S

Associated Papers

Progress in the pathogenic mechanism, histological characteristics of hereditary dentine disorders and clinical management strategies.

Xue Q et al.

Frontiers in Cell and Developmental Biology, 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

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Liu F et al.

Signal Transduction and Targeted Therapy, 2021

33563892 (PubMed )
Supplement: 41392_2020_412_MOESM16_ESM.xlsx › Supplementary_Table_S15

The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.

Zhang ZL et al.

Journal of Bone and Mineral Metabolism, 2012

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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."