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A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 ;45(10):1226-1231.
. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 ;100(5):E808-14.
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