Varaico: Literature-Extracted Genetic Variants

Gene:LIAS
Variant:p.L208F
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LIAS

NM_006859.4:p.L208F

Associated Papers

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

Ferrer-Cortès X et al.

Journal of Inherited Metabolic Disease, 2013

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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."