Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.I224F
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PAH

NM_000277.3:p.I224F

Associated Papers

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients.

Trender-Gerhard I et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2009

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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."