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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKRA

Variant:p.C213_T214delFs

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PRKRA

NM_003690.5:p.C213_T214delFs

hg38:chr2:178436287 AGTAC>A

Associated Papers

Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes.

Thomsen M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

38214203 (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."