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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLOD2

Variant:p.L600_M604del5

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PLOD2

NM_182943.3:p.L600_M604del5

hg38:chr3:146072596 CCATTTCTTCTACCAA>C

Associated Papers

Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients.

Zhou P et al.

Plos One, 2014

25238597 (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."