Genotype/Phenotype correlations
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mutations that abrogate or reduce gene activity result in defective V(D)J recombination and impaired B and T lymphocyte development (PMID: 21147755))
partial loss of DCLRE1C alleles that lead to truncation of the non-conserved C-terminus may have greater oncogenic potential compared with complete null alleles (PMID: 21147755))
hypomorphic mutations result in combined immunodeficiency syndromes of varying severity, but, in addition, are hypothesized to predispose to lymphoid malignancy (PMID: 21147755)) |