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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKDC

Variant:p.A3949_T3950insG

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PRKDC

NM_006904.7:p.A3949_T3950insG

hg38:chr8:47778467 C>CNNN

Associated Papers

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Ylikallio E et al.

Brain : a Journal of Neurology, 2017

28633435 (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."