Varaico: Literature-Extracted Genetic Variants

Gene:UBASH3A
Variant:p.R439T
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UBASH3A

NM_018961.4:p.R439T

Associated Papers

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C et al.

Human Molecular Genetics, 2018

29300972 (PubMed )
Supplement: supplementary_material_ddx435.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."