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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPSE

Variant:p.E109E

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HPSE

NM_001098540.3:p.E109E

hg38:chr4:83322265 T>C

Associated Papers

Reduced FcRn-mediated transcytosis of IgG2 due to a missing Glycine in its lower hinge.

Stapleton NM et al.

Scientific Reports, 2019

31089170 (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."