Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.P314delFs
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PAH

NM_000277.3:p.P314delFs

Associated Papers

Improving phenylketonuria genotyping by screening for the IVS4+5g>t mutation in the PAH gene.

De Lucca M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009

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

Ho PY et al.

Biochemical and Biophysical Research Communications, 2008

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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."