Associated Papers
Exome sequencing in patient-parent trios suggests new candidate genes for early-onset primary sclerosing cholangitis.
Haisma SM et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2021
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
Meinke P et al.
Ebiomedicine, 2020
31862442 (PubMed )
Supplement: mmc1.xlsx › Family_Sequencing
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