Varaico: Literature-Extracted Genetic Variants

Gene:PRUNE1
Variant:p.A221fs
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PRUNE1

NM_021222.3:p.A221fs

Associated Papers

An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families.

Koko M et al.

Annals of Human Genetics, 2021

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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."