Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.N393insFs
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PAH

NM_000277.3:p.N393insFs

Associated Papers

Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India.

Bashyam MD et al.

Journal of Cellular Biochemistry, 2014

Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: identification of novel mutations that affect PAH RNA.

Bashyam MD et al.

Molecular Genetics and Metabolism, 2010

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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."