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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SUN1

Variant:p.S52fs

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SUN1

NM_001130965.3:p.S52fs

hg38:chr7:838874 TCC>N

Associated Papers

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

31840275 (PubMed )

Supplement: MUS-61-436-s001.docx

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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."