Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.T200insFs
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PAH

NM_000277.3:p.T200insFs

Associated Papers

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.

Ou MM et al.

Frontiers in Pediatrics, 2025

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S3

Ethnic preference distribution of inborn errors of metabolism: A 4-year study in a multi-ethnic region of China.

Mao X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Chen T et al.

Scientific Reports, 2018

[Research progress on phenotype and genotype of hyperphenylalaninemia].

Chen T et al.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2018

Phenylketonuria mutations in Northern China.

Song F et al.

Molecular Genetics and Metabolism, 2005

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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."