Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.P1150_G1151insFs
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COL1A1

NM_000088.4:p.P1150_G1151insFs

Associated Papers

Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.

Shi J et al.

Frontiers in Pharmacology, 2019

31680973 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.

Mrosk J et al.

Bone, 2018

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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."