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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASCL1

Variant:p.E216*

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ASCL1

NM_004316.4:p.E216*

hg38:chr12:102958890 G>T

Associated Papers

Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling.

Valencia AM et al.

Cell, 2019

31759698 (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."