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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UTP20

Variant:p.A1213T

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UTP20

NM_014503.3:p.A1213T

hg38:chr12:101334500 G>A

Associated Papers

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.

van der Welle REN et al.

Embo Molecular Medicine, 2021

33851776 (PubMed )

Supplement: EMMM-13-e13258-s002.zip › Dataset_EV1.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."