Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.G314R
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COL1A1

NM_000088.4:p.G314R

Associated Papers

Intersecting Pathologies: COL1A1-Related Syndrome in the Setting of Childhood-Onset Hypopituitarism: Case Report and Literature Review.

Pelineagră OE et al.

Diagnostics (basel, Switzerland), 2025

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
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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."