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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRAK1

Variant:p.V96_E101delFs

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TRAK1

NM_014965.5:p.V96_E101delFs

hg38:chr3:42184781 GTGGAACACATCAGGGA>G

Associated Papers

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

Barel O et al.

Brain : a Journal of Neurology, 2017

28364549 (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."