Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.D247N
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TARDBP

NM_007375.4:p.D247N

Associated Papers

CUL2-mediated clearance of misfolded TDP-43 is paradoxically affected by VHL in oligodendrocytes in ALS.

Uchida T et al.

Scientific Reports, 2016

26751167 (PubMed )
Supplement: srep19118-s1.pdf
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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."