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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTBN4

Variant:p.E2271K

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SPTBN4

NM_020971.3:p.E2271K

hg38:chr19:40568137 G>A

Associated Papers

Spectrins: molecular organizers and targets of neurological disorders.

Lorenzo DN et al.

Nature Reviews. Neuroscience, 2023

36697767 (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."