Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.*560R
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PUF60

NM_078480.3:p.*560R

Associated Papers

Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.

Miao M et al.

Gene, 2024

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.

Sedlackova L et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024

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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."