UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism

Publisher： John Wiley & Sons Inc

E-ISSN： 1552-4833|176|3|722-726

ISSN： 1552-4825

Source： American Journal Of Medical Genetics Part A, Vol.176, Iss.3, 2018-03, pp. : 722-726

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