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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABAT

Variant:p.G106S

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ABAT

NM_020686.6:p.G106S

hg38:chr16:8750539 G>A

Associated Papers

GABA transaminase deficiency. Case report and literature review.

Oshi A et al.

Clinical Case Reports, 2021

33768830 (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."