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Browsing Anatomical Pathology by Subject "Single nucleotide variant (SNV)"

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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

Karolak, Justyna A.; Gambin, Tomasz; Honey, Engela M.; Slavik, Tomas; Popek, Edwina; Stankiewicz, Paweł (BioMed Central, 2020-03-06)

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 ...

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