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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPST2

Variant:p.R46W

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TPST2

NM_003595.5:p.R46W

hg38:chr22:26541495 G>A

Associated Papers

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Accogli A et al.

Neurology. Genetics, 2017

28815207 (PubMed )

Supplement: supp_3.5.e179_Table_e-3.pdf

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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."