Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.Q133delFs
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EMD

NM_000117.3:p.Q133delFs

Associated Papers

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.

Kurian MA et al.

The Lancet. Neurology, 2011

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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."