Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.S163T
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QDPR

NM_000320.3:p.S163T

Associated Papers

A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.

Ghanei M et al.

Human Heredity, 2023

Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients.

Khatami S et al.

Jimd Reports, 2017

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