Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A1
Variant:p.R249*
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SLC46A1

NM_080669.6:p.R249*

Associated Papers

Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.

Gopal RK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

29915083 (PubMed )
Supplement: pnas.1711888115.sd01.xlsx › Exome_Variants

Hereditary Folate Malabsorption: A Rare Treatable Disorder with Hematological and Neurological Manifestations.

Kumar M et al.

Annals of Indian Academy of Neurology, 0

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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."