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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCEAL5

Variant:p.D82E

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TCEAL5

NM_001012979.3:p.D82E

hg38:chrX:103274318 G>C

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."