Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.Q126*
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PAH

NM_000277.3:p.Q126*

Associated Papers

The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.

Zhang C et al.

Human Genomics, 2023

Molecular Function and Contribution of TBX4 in Development and Disease.

Karolak JA et al.

American Journal of Respiratory and Critical Care Medicine, 2023

Mitochondrial CHCHD2 and CHCHD10: Roles in Neurological Diseases and Therapeutic Implications.

Zhou W et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2020

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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."