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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PZP

Variant:p.Y255C

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PZP

NM_002864.3:p.Y255C

hg38:chr12:9197115 T>C

Associated Papers

A hypomorphic Mpi mutation unlocks an in vivo tool for studying global N-glycosylation deficiency.

Lin EB et al.

Jci Insight, 2025

40693465 (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."