Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L308V
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PAH

NM_000277.3:p.L308V

Associated Papers

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

Bayat A et al.

Clinical Genetics, 2016

Simultaneous assessment of the effects of exonic mutations on RNA splicing and protein functions.

Ho PY et al.

Biochemical and Biophysical Research Communications, 2008

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Nowacki PM et al.

Nucleic Acids Research, 1998

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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."