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LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy | 219 |
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LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy | 4 | 0 | 1 | 1 | 3 | 2 | 1 |
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