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A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region.
Muscle Nerve. 2019 Jan;59(1):116-121. doi: 10.1002/mus.26350. Epub 2018 Nov 13.
Muscle Nerve. 2019.
PMID: 30265400
A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability.
Loid P, Mäkitie R, Costantini A, Viljakainen H, Pekkinen M, Mäkitie O.
Loid P, et al.
Am J Med Genet A. 2018 Sep;176(9):1972-1975. doi: 10.1002/ajmg.a.40370. Epub 2018 Jul 28.
Am J Med Genet A. 2018.
PMID: 30055078
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