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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GTPBP2

Variant:p.R142*

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GTPBP2

NM_019096.5:p.R142*

hg38:chr6:43625839 G>A

Associated Papers

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

Bertoli-Avella AM et al.

European Journal of Human Genetics : Ejhg, 2018

29449720 (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."