Varaico: Literature-Extracted Genetic Variants

Gene:WHAMM
Variant:p.I422_E424delFs
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WHAMM

NM_001080435.3:p.I422_E424delFs

Associated Papers

An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway.

Mathiowetz AJ et al.

Molecular Biology of the Cell, 2017

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Jinks RN et al.

Brain : a Journal of Neurology, 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."