Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.K152E
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PC

NM_001040716.2:p.K152E

Associated Papers

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.

Hirata E et al.

The Journal of Biological Chemistry, 2024

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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."