Varaico: Literature-Extracted Genetic Variants

Gene:DCBLD2
Variant:p.R427H
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DCBLD2

NM_080927.4:p.R427H

Associated Papers

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Jackson GC et al.

Human Mutation, 2012

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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."