Varaico: Literature-Extracted Genetic Variants

Gene:BLM
Variant:p.S338A
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BLM

NM_000057.4:p.S338A

Associated Papers

TopBP1 interacts with BLM to maintain genome stability but is dispensable for preventing BLM degradation.

Blackford AN et al.

Molecular Cell, 2015

TopBP1 controls BLM protein level to maintain genome stability.

Wang J et al.

Molecular Cell, 2013

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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."