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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASNS

Variant:p.A386T

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ASNS

NM_001673.5:p.A386T

hg38:chr7:97854662 C>T

Associated Papers

Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.

Staklinski SJ et al.

The Journal of Biological Chemistry, 2022

35985424 (PubMed )

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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."