Varaico: Literature-Extracted Genetic Variants

Gene:SLC3A1
Variant:p.D554A
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SLC3A1

NM_000341.4:p.D554A

Associated Papers

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

Jaeken J et al.

American Journal of Human Genetics, 2006

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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."