Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.E69K
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ABAT

NM_020686.6:p.E69K

Associated Papers

Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.

Ni M et al.

Cell Reports, 2019

31042466 (PubMed )
Supplement: NIHMS1602824-supplement-Supplemental_Table_1.xlsx › Sheet1
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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."