Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.D131N
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SERPINA1

NM_000295.5:p.D131N

Associated Papers

LDLR variant classification through activity-normalized prime editing screening.

Zhou PJ et al.

Biorxiv : the Preprint Server for Biology, 2025

41473288 (PubMed )
Supplement: media-2.xlsx › SuppTable2

Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.

Sharma V et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Schollen E et al.

Human Mutation, 2000

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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."