Varaico: Literature-Extracted Genetic Variants

Gene:SLC9A6
Variant:p.N544Splc
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SLC9A6

NM_006359.3:p.N544Splc

Associated Papers

Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome.

Güven NE et al.

Molecular Syndromology, 2024

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

Lan Y et al.

Frontiers in Genetics, 2021

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.

McSherry M et al.

Plos One, 2018

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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."