A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report
Abstract Background Application of whole genome sequencing (WGS) enables identification of non-coding variants that play a phenotype-modifying role and are undetectable by exome sequencing. Recently, non-coding regulatory single nucleotide variants (SNVs) have been reported in patients with lethal l...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
BMC,
2020-03-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |