Varaico: Literature-Extracted Genetic Variants

Gene:DYM
Variant:p.I418_E427delFs
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DYM

NM_001353214.3:p.I418_E427delFs

Associated Papers

Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.

Denais C et al.

Human Mutation, 2011

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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."