Varaico: Literature-Extracted Genetic Variants

Gene:ASNS
Variant:p.Y311C
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ASNS

NM_001673.5:p.Y311C

Associated Papers

Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases.

Radha Rama Devi A et al.

Gene, 2019

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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."