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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTB

Variant:p.K238del1

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ACTB

NM_001101.5:p.K238del1

hg38:chr7:5528367 CTCT>C

Associated Papers

Pathogenic p62/SQSTM1 mutations impair energy metabolism through limitation of mitochondrial substrates.

Bartolome F et al.

Scientific Reports, 2017

28490746 (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."