Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.E547*
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SLC9A6

NM_001042537.2:p.E547*

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

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

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

Lan Y et al.

Frontiers in Genetics, 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

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Pescosolido MF et al.

Annals of Neurology, 2014

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

Schuurs-Hoeijmakers JH et al.

Journal of Medical Genetics, 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."