Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A9
Variant:p.K310_S311delFs
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SLC6A9

NM_201649.4:p.K310_S311delFs

Associated Papers

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.

Mademont-Soler I et al.

American Journal of Medical Genetics. Part A, 2021

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.

Kurolap A et al.

American Journal of Human Genetics, 2016

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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."