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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:QDPR

Variant:p.V43del1

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QDPR

NM_000320.3:p.V43del1

hg38:chr4:17509338 TCCA>T

Associated Papers

Dihydropteridine Reductase Deficiency - A Rare and Potentially Treatable Cause Mimicking Cerebral Palsy.

Ribeiro M et al.

Endocrine, Metabolic & Immune Disorders Drug Targets, 2023

37946348 (PubMed )

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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."