Publications
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Filters: Author is Gambin, Tomasz and Keyword is Sequence Deletion [Clear All Filters]
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet 135, 569-586 (2016).
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res 45, 1633-1648 (2017).