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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSEN54

Variant:p.E11K

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TSEN54

NM_207346.3:p.E11K

hg38:chr17:75516591 G>A

Associated Papers

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

Rudnik-Schöneborn S et al.

Neurology, 2013

23284067 (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."