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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DES

Variant:p.E245_E246Splc

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DES

NM_001927.4:p.E245_E246Splc

hg38:chr2:219420348 T>C

Associated Papers

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.

Ogasawara M et al.

Acta Neuropathologica Communications, 2022

36476314 (PubMed )

Supplement: 40478_2022_1482_MOESM1_ESM.xlsx › Sheet1

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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."