Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.E261*
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SLC46A1

NM_080669.6:p.E261*

Associated Papers

The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.

Zhao R et al.

Molecular Aspects of Medicine, 2017

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.

Erlacher M et al.

Pediatric Blood & Cancer, 2015

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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."