Varaico: Literature-Extracted Genetic Variants

Gene:SPINK1
Variant:p.R67S
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SPINK1

NM_001379610.1:p.R67S

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

Functional analysis of recombinant pancreatic secretory trypsin inhibitor protein with amino-acid substitution.

Kuwata K et al.

Journal of Gastroenterology, 2002

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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."