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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL1A2

Variant:p.G457E

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COL1A2

NM_000089.4:p.G457E

hg38:chr7:94412087 G>A

Associated Papers

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases.

Liu Y et al.

Diagnostic Pathology, 2019

31299979 (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."