Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G775E
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COL1A2

NM_000089.4:p.G775E

Associated Papers

Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta.

Choi Y et al.

Annals of Pediatric Endocrinology & Metabolism, 2022

Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.

Zhytnik L et al.

Clinical and Translational Science, 2020

COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.

Zhytnik L et al.

Frontiers in Genetics, 2019

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.

Zhytnik L et al.

Human Genomics, 2017

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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."