Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.K195insFs
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PAH

NM_000277.3:p.K195insFs

Associated Papers

Characterization of phenylalanine hydroxylase gene mutations in phenylketonuria in Xinjiang of China.

Yu W et al.

International Journal of Clinical and Experimental Medicine, 2014

[The research of combining high resolution melting with multiplex ligation-dependent probe amplification technology in the mutation scanning for PAH gene].

Ji CY et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011

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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."