Gene Locus : human-PNLIP
Mode of mutation : Natural mutant
Disease : Congenital absence of pancreatic lipase
Summary : Natural mutation Lin_2023_Pancreatology_S1424-3903_01834
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
c.562C > T, p.(R188C)
| Title : Characterization of novel PNLIP variants in congenital pancreatic lipase deficiency - Lin_2023_Pancreatology_S1424-3903_01834 |
| Author(s) : Lin J , Matiwala N , Curry GE , Wilhelm SJ , Cassidy BM , Lowe ME , Xiao X |
| Ref : Pancreatology , : , 2023 |
| Abstract : Lin_2023_Pancreatology_S1424-3903_01834 |
| ESTHER : Lin_2023_Pancreatology_S1424-3903_01834 |
| PubMedSearch : Lin_2023_Pancreatology_S1424-3903_01834 |
| PubMedID: 37926600 |
| Gene_locus related to this paper: human-PNLIP |