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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBC1D20

Variant:p.Y288_L298delFs

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TBC1D20

NM_144628.4:p.Y288_L298delFs

hg38:chr20:439170 AAGGTCTCCTGCTCTGCTGATCAGTGTCTCAT>A

Associated Papers

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.

Handley MT et al.

Open Biology, 2015

26063829 (PubMed )

Supplement: rsob150047supp1.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."