Varaico: Literature-Extracted Genetic Variants

Gene:FTCD
Variant:p.A438V
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FTCD

NM_206965.2:p.A438V

Associated Papers

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

The molecular basis of glutamate formiminotransferase deficiency.

Hilton JF et al.

Human Mutation, 2003

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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."