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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

Lynn Backers,Bram Parton,Marieke De Bruyne,Simon J. Tavernier,Kris Van den Bogaert,Bart N. Lambrecht,Filomeen Haerynck,Kathleen B. M. Claes

CLINICAL GENETICS（2021）

Cited 4|Views34
Key words
BLM,Bloom syndrome,cDNA analysis,deep intronic variant,missing heritability,non-coding variant,pseudo-exon activation,RECQL3
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