Thomas, Quentin ;
Motta, Marialetizia ;
Gautier, Thierry...
Thomas , Q , Motta , M , Gautier , T , Zaki , M S , Ciolfi , A , Paccaud , J , Girodon , F , Boespflug-Tanguy , O , Besnard , T , Kerkhof , J , McConkey , H , Masson , A , Denommé-Pichon , A-S , Cogné , B , Trochu , E , Vignard , V , El It , F , Rodan , L H , Alkhateeb , M A , Jamra , R A , Duplomb , L , Tisserant , E , Duffourd , Y , Bruel , A-L , Jackson , A , Banka , S , McEntagart , M , Saggar , A , Gleeson , J G , Sievert , D , Bae , H , Lee , B H , Kwon , K , Seo , G H , Lee , H , Saeed , A , Anjum , N , Cheema , H , Alawbathani , S , Pinto-Basto , J , Teoh , J , Wong , J , Sahari , U B M , Houlden , H , Zhelcheska , K , Pannetier , M , Awad , M A , Lesieur-Sebellin , M , Barcia , G , Amiel , J , Delanne , J , Philippe , C , Faivre , L , Odent , S , Bertoli-Avella , A , Thauvin , C , Sadikovic , B , Reversade , B , Maroofian , R , Govin , J , Tartaglia , M & Vitobello , A 2022 , ' Bi-allelic loss-of-function variants in TMEM147 cause moderate to profoun....
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2022