Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
36833190 (PubMed )
Supplement: genes-14-00263-s001.zip › Table_S1.xlsx › PTS_Short_Var_Pathogenetic
Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center.
Vela-Amieva M et al.
Frontiers in Genetics, 2022
Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province.
Xie K et al.
Frontiers in Genetics, 2022
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.
Fernández-Lainez C et al.
Brain & Development, 2018
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
Chiu YH et al.
Journal of Human Genetics, 2012
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