Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.G389fs
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SLC46A1

NM_080669.6:p.G389fs

Associated Papers

A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).

Tozawa Y et al.

Clinical Immunology (orlando, Fla.), 2019

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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."