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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SYNJ1

Variant:p.E400_M401Splc

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SYNJ1

NM_203446.3:p.E400_M401Splc

hg38:chr21:32681651 T>A

Associated Papers

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Tuschl K et al.

Nature Communications, 2016

27231142 (PubMed )

Supplement: ncomms11601-s1.pdf

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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."