Varaico: Literature-Extracted Genetic Variants

Gene:MGP
Variant:p.C19Y
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MGP

NM_000900.5:p.C19Y

Associated Papers

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.

Gourgas O et al.

Nature Communications, 2023

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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."