Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.F450_V451Splc
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SLC9A6

NM_001042537.2:p.F450_V451Splc

Associated Papers

Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.

Yalcintepe S et al.

Clinical Dysmorphology, 2021

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Zanni G et al.

Epilepsy Research, 2014

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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."