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Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c 500A>T missense mutation

Journal of medical genetics. 2020-03; 
Ververis A,Dajani R,Koutsou P,Aloqaily A,Nelson-Williams C,Loring E,Arafat A,Mubaidin AF,Horany K,Bader MB,Al-Baho Y,Ali B,Muhtaseb A,DeSpenza T Jr,Al-Qudah AA,Middleton LT,Zamba-Papanicolaou E,Lifton R,Christodoulou K
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