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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELN

Variant:p.G610C

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ELN

NM_000501.4:p.G610C

hg38:chr7:74063194 G>T

Associated Papers

Risk of Pulmonary Diseases in Osteogenesis Imperfecta in Denmark: A Register-Based Cohort Study.

Andersen JD et al.

Chest, 2025

39299390 (PubMed )

Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models.

Crawford TK et al.

Calcified Tissue International, 2024

38641703 (PubMed )

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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."