Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.G772R
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COL1A2

NM_000089.4:p.G772R

Associated Papers

Registry-Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders.

Abegglen O et al.

American Journal of Medical Genetics. Part A, 2025

Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa.

Coetzer KC et al.

European Journal of Human Genetics : Ejhg, 2024

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.

Yamaguti PM et al.

Journal of Dental Research, 2023

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

Morlino S et al.

Clinical Genetics, 2020

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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."