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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOSC1

Variant:p.K180R

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EXOSC1

NM_016046.5:p.K180R

hg38:chr10:97436494 T>C

Associated Papers

The function and regulation of calsequestrin-2: implications in calcium-mediated arrhythmias.

Sibbles ET et al.

Biophysical Reviews, 2022

35340602 (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."