Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.L436fs
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SLC9A6

NM_006359.3:p.L436fs

Associated Papers

Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay.

Jiao JP et al.

Orphanet Journal of Rare Diseases, 2025

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

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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."