Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.D318E
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C3

NM_000064.4:p.D318E

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

A highly Conserved Aspartic Acid Residue of the Chitosanase from Bacillus Sp. TS Is Involved in the Substrate Binding.

Zhou Z et al.

Applied Biochemistry and Biotechnology, 2016

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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."