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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSEN2

Variant:p.A286T

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TSEN2

NM_001145394.2:p.A286T

hg38:chr3:12519131 G>A

Associated Papers

Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.

Bierhals T et al.

European Journal of Medical Genetics, 2013

23562994 (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."