Varaico: Literature-Extracted Genetic Variants

Gene:TMEM165
Variant:p.Y124F
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TMEM165

NM_018475.5:p.Y124F

Associated Papers

Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.

Rosnoblet C et al.

Human Molecular Genetics, 2013

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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."