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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMUB1

Variant:p.G45insFs

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TMUB1

NM_001136044.2:p.G45insFs

hg38:chr7:151082428 T>TCC

Associated Papers

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.

Monfrini E et al.

Brain : a Journal of Neurology, 2021

33871597 (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."