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Title : Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders - Liu_2023_bioRxiv__ |
Author(s) : Liu J , He Y , Lwin C , Han M , Guan B , Naik A , Bender C , Moore N , Huryn LA , Sergeev Y , Qian H , Zeng Y , Dong L , Liu P , Lei J , Haugen CJ , Prasov L , Shi R , Dollfus H , Aristodemou P , Laich Y , Nemeth AH , Taylor J , Downes S , Krawczynski M , Meunier I , Strassberg M , Tenney J , Gao J , Shear MA , Moore AT , Duncan JL , Menendez B , Hull S , Vincent A , Siskind CE , Traboulsi EI , Blackstone C , Sisk R , Utz V , Webster AR , Michaelides M , Arno G , Synofzik M , Hufnagel RB |
Ref : Biorxiv , : , 2023 |
Abstract : Liu_2023_bioRxiv__ |
ESTHER : Liu_2023_bioRxiv__ |
PubMedSearch : Liu_2023_bioRxiv__ |
PubMedID: 37333224 |
Title : SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family - Roeben_2018_J.Med.Genet_55_39 |
Author(s) : Roeben B , Schule R , Ruf S , Bender B , Alhaddad B , Benkert T , Meitinger T , Reich S , Bohringer J , Langhans CD , Vaz FM , Wortmann SB , Marquardt T , Haack TB , Krageloh-Mann I , Schols L , Synofzik M |
Ref : Journal of Medical Genetics , 55 :39 , 2018 |
Abstract : Roeben_2018_J.Med.Genet_55_39 |
ESTHER : Roeben_2018_J.Med.Genet_55_39 |
PubMedSearch : Roeben_2018_J.Med.Genet_55_39 |
PubMedID: 28916646 |
Gene_locus related to this paper: human-SERAC1 |