Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.D394H
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PAH

NM_000277.3:p.D394H

Associated Papers

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.

Su Y et al.

Annals of Translational Medicine, 2019

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.

Garbade SF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.

Aulehla-Scholz C et al.

Human Mutation, 2003

Molecular basis of mild hyperphenylalaninaemia in Turkey.

Yilmaz E et al.

Journal of Inherited Metabolic Disease, 2000

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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."