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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DES

Variant:p.M1_Q9del9

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DES

NM_001927.4:p.M1_Q9del9

hg38:chr2:219418462 CATGAGCCAGGCCTACTCGTCCAGCCAG>C

Associated Papers

The many faces of plectin and plectinopathies: pathology and mechanisms.

Winter L et al.

Acta Neuropathologica, 2013

22864774 (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."