Varaico: Literature-Extracted Genetic Variants

Gene:MIA3
Variant:p.S189insFs
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MIA3

NM_198551.4:p.S189insFs

Associated Papers

A novel mutation in collagen transport protein, MIA3 gene, detected in a patient with clinical symptoms of Ehlers-Danlos hypermobile syndrome.

Junkiert-Czarnecka A et al.

Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 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."