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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PURA

Variant:p.R171P

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PURA

NM_005859.5:p.R171P

hg38:chr5:140114693 G>C

Associated Papers

Movement Disorders in PURA Syndrome: A Video Case Series.

Crippa ACS et al.

Movement Disorders Clinical Practice, 2023

37868916 (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."