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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPM1D

Variant:p.L546insFs

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PPM1D

NM_003620.4:p.L546insFs

hg38:chr17:60663370 C>CTG

Associated Papers

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

Ruark E et al.

Nature, 2013

23242139 (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."