Varaico: Literature-Extracted Genetic Variants

Gene:PLBD1
Variant:p.T2I
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PLBD1

NM_024829.6:p.T2I

Associated Papers

IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.

Kuukasjärvi A et al.

European Journal of Human Genetics : Ejhg, 2021

34305140 (PubMed )
Supplement: 41431_2021_939_MOESM2_ESM.xlsx › Filtered_variants
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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."