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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

American journal of human genetics. 2020-08; 
Manole A,Efthymiou S,O'Connor E,Mendes MI,Jennings M,Maroofian R,Davagnanam I,Mankad K,Lopez MR,Salpietro V,Harripaul R,Badalato L,Walia J,Francklyn CS,Athanasiou-Fragkouli A,Sullivan R,Desai S,Baranano K,Zafar F,Rana N,Ilyas M,Horga A,Kara M,Mattioli F,Goldenberg A,Griffin H,Piton A,Henderson LB,Kara B,Aslanger AD,Raaphorst J,Pfundt R,Portier R,Shinawi M,Kirby A,Christensen KM,Wang L,Rosti RO,Paracha SA,Sarwar MT,Jenkins D,SYNAPS Study Group.,Ahmed J,Santoni FA,Ranza E,Iwaszkiewicz J,Cytrynbaum C,Weksberg R,Wentzensen IM,Guillen Sacoto MJ,Si Y,Telegrafi A,Andrews MV,Baldridge D,Gabriel H,Mohr J,Oehl-Jaschkowitz B,Debard S,Senger B,Fischer F,van Ravenwaaij C,Fock AJM,Stevens SJC,Bähler J,Nasar A,Mantovani JF,Manzur A,Sarkozy A,Smith DEC,Salomons GS,Ahmed ZM,Riazuddin S,Riazuddin S,Usmani MA,Seibt A,Ansar M,Antonarakis SE,Vincent JB,Ayub M,Grimmel M,Jelsig AM,Hjortshøj TD,Karstensen HG,Hummel M,Haack TB,Jamshidi Y,Distelmaier F,Horvath R,Gleeson JG,Becker H,Mandel JL,Koolen DA,Houlden H
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