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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPB41

Variant:p.S14*

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EPB41

NM_001376013.1:p.S14*

hg38:chr1:28987478 C>A

Associated Papers

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.

Boyd C et al.

Clinical Genetics, 2008

18647326 (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."