Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q355*
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PAH

NM_000277.3:p.Q355*

Associated Papers

Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Liu N et al.

Bmc Medical Genetics, 2018

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

Liu N et al.

Bmc Medical Genetics, 2017

28982351 (PubMed )
Supplement: 12881_2017_467_MOESM1_ESM.xls › Sheet1

Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.

Aulehla-Scholz C et al.

Human Mutation, 2003

Phenylketonuria mutations in Germany.

Zschocke J et al.

Human Genetics, 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."