Varaico: Literature-Extracted Genetic Variants

Gene:QDPR
Variant:p.S39R
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QDPR

NM_000320.3:p.S39R

Associated Papers

QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.

Lu DY et al.

World Journal of Pediatrics : Wjp, 2014

[Follow up and gene mutation analysis in cases suspected as 3-methylcrotonyl-coenzyme A carboxylase deficiency by neonatal screening].

Ye J et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China].

Ye J et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008

Dihydropteridine reductase deficiency in man: from biology to treatment.

Ponzone A et al.

Medicinal Research Reviews, 2004

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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."