Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.W570*
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SLC9A6

NM_001042537.2:p.W570*

Associated Papers

Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.

Kavanaugh BC et al.

Journal of Medical Genetics, 2024

Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults.

Kavanaugh BC et al.

Medrxiv : the Preprint Server for Health Sciences, 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

Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.

Lizarraga SB et al.

Science Translational Medicine, 2021

Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.

Ilie A et al.

The Journal of Biological Chemistry, 2020

Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.

Ikeda A et al.

Epilepsy & Behavior Reports, 2020

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."