Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.P226fs
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COL1A1

NM_000088.4:p.P226fs

Associated Papers

Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta.

Gentile FV et al.

Human Mutation, 2012

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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."