Varaico: Literature-Extracted Genetic Variants

Gene:MPI
Variant:p.G393A
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MPI

NM_002435.3:p.G393A

Associated Papers

Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia.

Mühlhausen C et al.

Jimd Reports, 2020

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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."