Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.L37_I38insFs
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PAH

NM_000277.3:p.L37_I38insFs

Associated Papers

Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families.

Xiao Y et al.

Chinese Medical Journal, 2021

34039861 (PubMed )
Supplement: cm9-134-1626-s001.pdf

Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.

Cao YY et al.

Molecular Genetics and Metabolism, 2014

Phenylketonuria mutations in Northern China.

Song F et al.

Molecular Genetics and Metabolism, 2005

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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."