Gene Locus : human-SERAC1
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 :
homozygotic SERAC1 variant NM_032861: exon4:c.T139A: p.F471 (rs112780453)
| Title : SERAC1 Deficiency- A New Phenotype - Martins_2023_Endocr.Metab.Immune.Disord.Drug.Targets__ |
| Author(s) : Martins E , Duraes J , Nogueira C , Gomes J , Vilarinho L , Macario C |
| Ref : Endocr Metab Immune Disord Drug Targets , : , 2023 |
| Abstract : |
| PubMedSearch : Martins_2023_Endocr.Metab.Immune.Disord.Drug.Targets__ |
| PubMedID: 37711114 |
| Gene_locus related to this paper: human-SERAC1 |