Varaico: Literature-Extracted Genetic Variants

Gene:AIMP2
Variant:p.E19Q
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AIMP2

NM_006303.4:p.E19Q

Associated Papers

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.

Wang H et al.

Acta Neuropathologica Communications, 2018

30157964 (PubMed )
Supplement: 40478_2018_589_MOESM1_ESM.pdf
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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."