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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASS1

Variant:p.N371S

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ASS1

NM_054012.4:p.N371S

hg38:chr9:130495008 A>G

Associated Papers

Genetic characterization of myeloperoxidase deficiency in Italy.

Marchetti C et al.

Human Mutation, 2004

15108282 (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."