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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM163

Variant:p.R138C

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TMEM163

NM_030923.5:p.R138C

hg38:chr2:134550616 G>A

Associated Papers

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.

do Rosario MC et al.

Brain : a Journal of Neurology, 2022

35953447 (PubMed )

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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."