Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A6OS
Variant:p.Q64R
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SLC7A6OS

NM_032178.3:p.Q64R

Associated Papers

Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.

Mazzola L et al.

Annals of Neurology, 2021

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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."