Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.E64*
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SLC9A6

NM_001042537.2:p.E64*

Associated Papers

NDPACX: a newly defined X-linked Parkinsonian syndrome associated with SLC9A6 hemizygote mutation.

Okochi R et al.

Brain Communications, 2025

Endosomal Acid-Base Homeostasis in Neurodegenerative Diseases.

Prasad H et al.

Reviews of Physiology, Biochemistry and Pharmacology, 2023

Clinical and genetic analysis of Christianson syndrome caused by variant of SLC9A6: case report and literature review.

Dong Y et al.

Frontiers in Neurology, 2023

Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review.

Zhang X et al.

Journal of Clinical Laboratory Analysis, 2022

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Pescosolido MF et al.

Annals of Neurology, 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."