Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Y204Y
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PAH

NM_000277.3:p.Y204Y

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

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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."