Varaico: Literature-Extracted Genetic Variants

Gene:SLC44A1
Variant:p.S126_D127delFs
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SLC44A1

NM_080546.5:p.S126_D127delFs

Associated Papers

Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.

Fagerberg CR et al.

Brain : a Journal of Neurology, 2020

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 2017

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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."