Associated Papers
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
Phosphatidylinositol 4,5-bisphosphate (PIP2) regulates KCNQ3 K+ channels by interacting with four cytoplasmic channel domains.
Choveau FS et al.
The Journal of Biological Chemistry, 2018
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