Varaico: Literature-Extracted Genetic Variants

Gene:SLC1A4
Variant:p.L315delFs
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SLC1A4

NM_003038.5:p.L315delFs

Associated Papers

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

Damseh N et al.

Journal of Medical Genetics, 2015

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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."