Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.N52S
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SPINK1

NM_001379610.1:p.N52S

Associated Papers

Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants.

Wu H et al.

Human Genomics, 2024

38414044 (PubMed )
Supplement: 40246_2024_586_MOESM1_ESM.xlsx › Feuil1

Asparagine-linked glycosylation of human chymotrypsin C is required for folding and secretion but not for enzyme activity.

Bence M et al.

The Febs Journal, 2011

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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."