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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC7A2

Variant:p.I292fs

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SLC7A2

NM_001370338.1:p.I292fs

hg38:chr8:17551805 ATT>N

Associated Papers

Metabolic Serendipities of Expanded Newborn Screening.

Yahyaoui R et al.

Genes, 2020

32872442 (PubMed )

A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening.

Yahyaoui R et al.

Journal of Inherited Metabolic Disease, 2019

30671984 (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."