Varaico: Literature-Extracted Genetic Variants

Gene:ACSL5
Variant:p.T453I
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ACSL5

NM_203379.2:p.T453I

Associated Papers

Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.

Al-Thihli K et al.

Clinical Genetics, 2021

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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."