Varaico: Literature-Extracted Genetic Variants

Gene:COL1A2
Variant:p.L1031_G1033del3
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COL1A2

NM_000089.4:p.L1031_G1033del3

Associated Papers

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Essawi O et al.

Molecular Genetics & Genomic Medicine, 2018

Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.

Rauch F et al.

Calcified Tissue International, 2014

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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."