Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.D338fs
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SLC3A1

NM_000341.4:p.D338fs

Associated Papers

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Gaildrat P et al.

Molecular Genetics & Genomic Medicine, 2017

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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."