Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.D296N
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PAH

NM_000277.3:p.D296N

Associated Papers

Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.

Kreile M et al.

Molecular Genetics and Metabolism Reports, 2020

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
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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."