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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLOD2

Variant:p.H687Y

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PLOD2

NM_182943.3:p.H687Y

hg38:chr3:146071104 G>A

Associated Papers

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Leal GF et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2018

29178448 (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."