Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L88L
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PAH

NM_000277.3:p.L88L

Associated Papers

Analysis of allelic variants in the catalase gene in patients with the skin depigmenting disorder vitiligo.

Gavalas NG et al.

Biochemical and Biophysical Research Communications, 2006

Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.

Nagatsu T et al.

Molecular Neurobiology, 1999

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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."