Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.D73fs
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SLC22A5

NM_003060.4:p.D73fs

Associated Papers

Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening.

Akan G et al.

Orphanet Journal of Rare Diseases, 2025

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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."