Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.H264Y
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PAH

NM_000277.3:p.H264Y

Associated Papers

A universal strategy for AAV delivery of base editors to correct genetic point mutations in neonatal PKU mice.

Zhou L et al.

Molecular Therapy. Methods & Clinical Development, 2022

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T et al.

Frontiers in Genetics, 2019

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."