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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P3H3

Variant:p.R3_L4delins

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P3H3

NM_014262.5:p.R3_L4delins

hg38:chr12:6828449 GC>TT

Associated Papers

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.

Chen Y et al.

Frontiers in Pediatrics, 2020

32185155 (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."