Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.H271Y
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PAH

NM_000277.3:p.H271Y

Associated Papers

Development and validation of machine-learning models of diet management for hyperphenylalaninemia: a multicenter retrospective study.

Su Y et al.

Bmc Medicine, 2024

39256839 (PubMed )
Supplement: 12916_2024_3602_MOESM1_ESM.xlsx › Table_S3

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_PAH

AIP gene and familial isolated pituitary adenomas.

Ozfirat Z et al.

Molecular and Cellular Endocrinology, 2010

PAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.

Nowacki PM et al.

Nucleic Acids Research, 1998

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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."