Gene Locus : human-CEL
Mode of mutation : Natural mutant
Disease :
Summary :
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 :
heterozygous single-base pair deletion in exon 11 of the carboxyl ester lipase (CEL) gene (chr9:g.133071542del\; c.2040del\; p.Val681CysfsTer23)
| Title : An unusual combination of latent autoimmune diabetes in young and maturity-onset diabetes in young - Bora_2026_JCEM.Case.Rep_4_luag158 |
| Author(s) : Bora A , Manasa CVS , Alekya LAV , Mashetty S , Guddeti A , Hari Kumar KVS |
| Ref : JCEM Case Rep , 4 :luag158 , 2026 |
| Abstract : |
| PubMedSearch : Bora_2026_JCEM.Case.Rep_4_luag158 |
| PubMedID: 42273279 |
| Gene_locus related to this paper: human-CEL |