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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COMP

Variant:p.W344_G345del1

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COMP

NM_000095.3:p.W344_G345del1

hg38:chr19:18787591 GCCC>G

Associated Papers

Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.

Briggs MD et al.

European Journal of Human Genetics : Ejhg, 2014

24595329 (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."