Varaico: Literature-Extracted Genetic Variants

Gene:WAC
Variant:p.L629fs
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WAC

NM_016628.5:p.L629fs

Associated Papers

Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation.

Uehara T et al.

American Journal of Medical Genetics. Part A, 2018

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

Lugtenberg D et al.

European Journal of Human Genetics : Ejhg, 2016

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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."