Varaico: Literature-Extracted Genetic Variants

Gene:ASNS
Variant:p.I145T
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ASNS

NM_001178076.2:p.I145T

Associated Papers

Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.

Abhyankar A et al.

Clinical Case Reports, 2018

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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."