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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL1A2

Variant:p.G538S

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COL1A2

NM_000089.4:p.G538S

hg38:chr7:94413894 G>A

Associated Papers

Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta.

Yamaguti PM et al.

Journal of Dental Research, 2023

36951356 (PubMed )

Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta.

Li L et al.

Frontiers in Genetics, 2019

31737030 (PubMed )

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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."