Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.V233fs
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PUF60

NM_078480.3:p.V233fs

Associated Papers

First report of tethered cord syndrome in a patient with Verheij syndrome.

Kocaaga A et al.

Ophthalmic Genetics, 2023

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

Zhao JJ et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

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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."