Associated Papers
Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome.
He H et al.
Cns Neuroscience & Therapeutics, 2023
Endosomal Acid-Base Homeostasis in Neurodegenerative Diseases.
Prasad H et al.
Reviews of Physiology, Biochemistry and Pharmacology, 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
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.
Yalcintepe S et al.
Clinical Dysmorphology, 2021
Novel SLC9A6 mutations in two families with Christianson syndrome.
Riess A et al.
Clinical Genetics, 2013
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