Varaico: Literature-Extracted Genetic Variants

Gene:ECD
Variant:p.D576N
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ECD

NM_007265.3:p.D576N

Associated Papers

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS et al.

Nature Communications, 2017

28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.

Manwaring V et al.

Journal of Inherited Metabolic Disease, 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."