MUTATIONS IN UBE4A CAUSE A DNA-REPAIR DEFECT AND UNDERLIE A NOVEL AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY SYNDROME

H. Byers,U. Souto Melo, D. Bonner,M. Hashem, N. Di Donato, A. Jahn,F. Alkuraya,F. Kok

AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2020)

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