Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A4
Variant:p.E628D
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ATP13A4

NM_032279.4:p.E628D

Associated Papers

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.

Worthey EA et al.

Journal of Neurodevelopmental Disorders, 2013

The E646D-ATP13A4 mutation associated with autism reveals a defect in calcium regulation.

Vallipuram J et al.

Cellular and Molecular Neurobiology, 2010

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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."