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Missing heritability in Bloom syndrome : First report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
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Integration of genomics and transcriptomics to identify DNAdamage defects in PID patients with a cancer predisposition
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Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene
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Integration of genomics and transcriptomics to identify DNA damage defects in PID patients prone to cancer
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Integration of genomics and transcriptomics allows the identification of rare DNA damage defects in PID patients with a cancer predisposition
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First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
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Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
-
Missing heritability in Bloom syndrome : first report of a deep-intronic variant leading to pseudo-exon activation in the BLM gene
-
First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
(2020)