| Title : RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position - Keehan_2025_Case.Rep.Genet_2025_1882021 |
| Author(s) : Keehan L , Carter JN , Kravets E , Wheeler MT , Bernstein JA , Maselli RA , Sampson JB , Bachir S |
| Ref : Case Rep Genet , 2025 :1882021 , 2025 |
| Abstract : |
| PubMedSearch : Keehan_2025_Case.Rep.Genet_2025_1882021 |
| PubMedID: 41158980 |
| Title : RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position - Keehan_2025_Case.Rep.Genet_2025_1882021 |
| Author(s) : Keehan L , Carter JN , Kravets E , Wheeler MT , Bernstein JA , Maselli RA , Sampson JB , Bachir S |
| Ref : Case Rep Genet , 2025 :1882021 , 2025 |
| Abstract : |
| PubMedSearch : Keehan_2025_Case.Rep.Genet_2025_1882021 |
| PubMedID: 41158980 |
| Title : RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position - Keehan_2025_Case.Rep.Genet_2025_1882021 |
| Author(s) : Keehan L , Carter JN , Kravets E , Wheeler MT , Bernstein JA , Maselli RA , Sampson JB , Bachir S |
| Ref : Case Rep Genet , 2025 :1882021 , 2025 |
| Abstract : |
| PubMedSearch : Keehan_2025_Case.Rep.Genet_2025_1882021 |
| PubMedID: 41158980 |
| Title : DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1\/IL-1 signaling - Harapas_2022_Sci.Immunol_7_eabi4611 |
| Author(s) : Harapas CR , Robinson KS , Lay K , Wong J , Moreno Traspas R , Nabavizadeh N , Rass-Rothschild A , Boisson B , Drutman SB , Laohamonthonkul P , Bonner D , Xiong JR , Gorrell MD , Davidson S , Yu CH , Fleming MD , Gudera J , Stein J , Ben-Harosh M , Groopman E , Shimamura A , Tamary H , Kayserili H , Hatipoglu N , Casanova JL , Bernstein JA , Zhong FL , Masters SL , Reversade B |
| Ref : Sci Immunol , 7 :eabi4611 , 2022 |
| Abstract : |
| PubMedSearch : Harapas_2022_Sci.Immunol_7_eabi4611 |
| PubMedID: 36112693 |
| Gene_locus related to this paper: human-DPP9 |
| Title : DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1\/IL-1 signaling - Harapas_2022_Sci.Immunol_7_eabi4611 |
| Author(s) : Harapas CR , Robinson KS , Lay K , Wong J , Moreno Traspas R , Nabavizadeh N , Rass-Rothschild A , Boisson B , Drutman SB , Laohamonthonkul P , Bonner D , Xiong JR , Gorrell MD , Davidson S , Yu CH , Fleming MD , Gudera J , Stein J , Ben-Harosh M , Groopman E , Shimamura A , Tamary H , Kayserili H , Hatipoglu N , Casanova JL , Bernstein JA , Zhong FL , Masters SL , Reversade B |
| Ref : Sci Immunol , 7 :eabi4611 , 2022 |
| Abstract : |
| PubMedSearch : Harapas_2022_Sci.Immunol_7_eabi4611 |
| PubMedID: 36112693 |
| Gene_locus related to this paper: human-DPP9 |
| Title : DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1\/IL-1 signaling - Harapas_2022_Sci.Immunol_7_eabi4611 |
| Author(s) : Harapas CR , Robinson KS , Lay K , Wong J , Moreno Traspas R , Nabavizadeh N , Rass-Rothschild A , Boisson B , Drutman SB , Laohamonthonkul P , Bonner D , Xiong JR , Gorrell MD , Davidson S , Yu CH , Fleming MD , Gudera J , Stein J , Ben-Harosh M , Groopman E , Shimamura A , Tamary H , Kayserili H , Hatipoglu N , Casanova JL , Bernstein JA , Zhong FL , Masters SL , Reversade B |
| Ref : Sci Immunol , 7 :eabi4611 , 2022 |
| Abstract : |
| PubMedSearch : Harapas_2022_Sci.Immunol_7_eabi4611 |
| PubMedID: 36112693 |
| Gene_locus related to this paper: human-DPP9 |