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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASNS

Variant:p.L399F

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ASNS

NM_001673.5:p.L399F

hg38:chr7:97854621 C>G

Associated Papers

Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.

Staklinski SJ et al.

Jimd Reports, 2023

36873094 (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."