Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.T237M
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QDPR

NM_000320.3:p.T237M

Associated Papers

Genetic investigations in cerebral palsy.

Basu AP et al.

Developmental Medicine and Child Neurology, 2025

39208295 (PubMed )
Supplement: DMCN-67-177-s001.pdf

Comprehensive bioinformatics analysis of structural and functional consequences of deleterious missense mutations in the human QDPR gene.

Girish A et al.

Journal of Biomolecular Structure & Dynamics, 2024

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

Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations.

Foroozani H et al.

Jimd Reports, 2015

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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."