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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:QDPR

Variant:p.P182Splc

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QDPR

NM_000320.3:p.P182Splc

hg38:chr4:17492231 C>A

Associated Papers

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

Mercimek-Mahmutoglu S et al.

Orphanet Journal of Rare Diseases, 2015

25758715 (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."