Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.V1177_G1178Splc
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COL1A1

NM_000088.4:p.V1177_G1178Splc

Associated Papers

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Bodian DL et al.

Human Molecular Genetics, 2009

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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."