Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.Q111Fs
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COL1A2

NM_000089.4:p.Q111Fs

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

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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."