Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.P225S
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COL1A1

NM_000088.4:p.P225S

Associated Papers

Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population.

Bayanova M et al.

Scientific Reports, 2025

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

Quack I et al.

American Journal of Human Genetics, 1999

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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."