Varaico: Literature-Extracted Genetic Variants

Gene:WDR45
Variant:p.R7Q
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WDR45

NM_001029896.2:p.R7Q

Associated Papers

Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.

Chen H et al.

European Journal of Medical Genetics, 2019

WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.

Kulikovskaja L et al.

Neurology. Genetics, 2018

WIPI proteins: essential PtdIns3P effectors at the nascent autophagosome.

Proikas-Cezanne T et al.

Journal of Cell Science, 2015

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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."