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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RAD50

Variant:p.L694*

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RAD50

NM_005732.4:p.L694*

hg38:chr5:132595684 T>A

Associated Papers

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.

Trubicka J et al.

Bmc Cancer, 2017

28376765 (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."