Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.Q306*
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SLC9A6

NM_001379110.1:p.Q306*

Associated Papers

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

Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis.

Lan Y et al.

Frontiers in Genetics, 2021

Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.

Mignot C et al.

Brain & Development, 2013

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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."