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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDZK1

Variant:p.N251D

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PDZK1

NM_001201325.2:p.N251D

hg38:chr1:145680954 T>C

Associated Papers

Effect of glycosylation on the function of a soluble, recombinant form of the transferrin receptor.

Byrne SL et al.

Biochemistry, 2006

16716077 (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."