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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCOF1

Variant:p.P335delFs

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TCOF1

NM_001371623.1:p.P335delFs

hg38:chr5:150374305 GC>G

Associated Papers

Brain Proteomic Profiling in Intractable Epilepsy Caused by TSC1 Truncating Mutations: A Small Sample Study.

Liu YD et al.

Frontiers in Neurology, 2020

32655475 (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."