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Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3.
Genome Med. 2022.
PMID: 35850704
Free PMC article.
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Blakes AJM, Wai HA, Davies I, Moledina HE, Ruiz A, Thomas T, Bunyan D, Thomas NS, Burren CP, Greenhalgh L, Lees M, Pichini A, Smithson SF, Taylor Tavares AL, O'Donovan P, Douglas AGL; Genomics England Research Consortium, Splicing and Disease Working Group; Whiffin N, Baralle D, Lord J.
Blakes AJM, et al.
Genome Med. 2022 Jul 26;14(1):79. doi: 10.1186/s13073-022-01087-x.
Genome Med. 2022.
PMID: 35883178
Free PMC article.
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