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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSPB3

Variant:p.E142K

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HSPB3

NM_006308.3:p.E142K

hg38:chr5:54456213 G>A

Associated Papers

The human tRNA taurine modification enzyme GTPBP3 is an active GTPase linked to mitochondrial diseases.

Peng GX et al.

Nucleic Acids Research, 2021

33619562 (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."