Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F39I
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PAH

NM_000277.3:p.F39I

Associated Papers

Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency.

Lee Y et al.

The Journal of Biological Chemistry, 2014

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders.

Gregersen N et al.

Journal of Inherited Metabolic Disease, 2001

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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."