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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARG2

Variant:p.S121Splc

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ARG2

NM_001172.4:p.S121Splc

hg38:chr14:67645641 A>T

Associated Papers

Mutation analysis in patients with N-acetylglutamate synthase deficiency.

Häberle J et al.

Human Mutation, 2003

12754705 (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."