Varaico: Literature-Extracted Genetic Variants

Gene:TMEM165
Variant:p.D111G
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TMEM165

NM_018475.5:p.D111G

Associated Papers

Efficacy of oral manganese and D-galactose therapy in a patient bearing a novel TMEM165 variant.

Durin Z et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2024

Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity.

Lebredonchel E et al.

Biochimie, 2019

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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."