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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| Description | scientific article published on 09 October 2020 |
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author: Kathleen Claes Marieke De Bruyne Filomeen Haerynck Lynn Backers Simon J Tavernier Bart Lambrecht |
| Publication date | October 9, 2020 |
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