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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSEN34

Variant:p.R38delFs

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TSEN34

NM_001077446.4:p.R38delFs

hg38:chr19:54191472 GC>G

Associated Papers

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Li Z et al.

Journal of Human Genetics, 2015

25809939 (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."