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Keywords: Slc9a6
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Journal Articles
In collection:
Neurodegenerative Disorders
Journal:
Disease Models & Mechanisms
Dis Model Mech (2016) 9 (1): 13–23.
Published: 1 January 2016
... microcephaly and hyperkinesis. CS is caused by mutations in the SLC9A6 gene, which encodes a multipass transmembrane sodium (potassium)-hydrogen exchanger 6 (NHE6) protein, functional in early recycling endosomes. The extent and variability of the CS phenotype in female heterozygotes, who presumably express...
Includes: Supplementary data
