Case Study: Genetic and In Silico Analysis of Familial Pancreatitis
This case study of a proband and his son provides additional evidence for a polygenic inheritance pattern in CP. The results also highlight new information on the role of the variants on protein function, suggesting additional testing of ligand binding for these variants should be done to confirm the functional impairments.
Authors
- Yagya V. Sharma
- Deborah J. Good (ORCID: https://orcid.org/0000-0003-0136-0975)
Institutions
- Virginia Tech (US)
Publication Details
- Journal
- Genes
- Published
- 2025-05-20
- DOI
- https://doi.org/10.3390/genes16050603
- Primary Topic
- Pancreatitis Pathology and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00