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UnknownGAPTrap: A Simple Expression System for Pluripotent Stem Cells and Their Derivatives.
Not available
S-EPMC5032031 | biostudies-literature
UnknownTRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
Not available
S-EPMC3135501 | biostudies-literature
UnknownA phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice.
Not available
S-EPMC10810432 | biostudies-literature
UnknownA recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
Not available
S-EPMC6483063 | biostudies-literature
UnknownThe recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Not available
S-EPMC10996746 | biostudies-literature
UnknownCharacterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
Not available
S-EPMC12404708 | biostudies-literature
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