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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GTPBP3

Variant:p.G312E

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GTPBP3

NM_032620.4:p.G312E

hg38:chr19:17339560 G>A

Associated Papers

Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.

Horvers M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013

23062754 (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."