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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC25A12

Variant:p.L600_L601insFs

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SLC25A12

NM_003705.5:p.L600_L601insFs

hg38:chr2:171787606 A>AT

Associated Papers

Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.

Tavoulari S et al.

Trends in Endocrinology and Metabolism: Tem, 2022

35725541 (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."