Varaico: Literature-Extracted Genetic Variants

Gene:SLC5A7
Variant:p.D349N
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SLC5A7

NM_021815.5:p.D349N

Associated Papers

Structural mechanisms of human sodium-coupled high-affinity choline transporter CHT1.

Xue J et al.

Cell Discovery, 2024

Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.

Rizvi M et al.

Human Molecular Genetics, 2023

Molecular properties of the high-affinity choline transporter CHT1.

Haga T

Journal of Biochemistry, 2014

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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."