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UnknownRare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Not available
S-EPMC6731366 | biostudies-literature
UnknownIncreased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.
Not available
S-EPMC3081151 | biostudies-literature
UnknownMyotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Not available
S-EPMC3007152 | biostudies-literature
UnknownT-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Not available
S-EPMC2773964 | biostudies-literature
GenomicsA Genome Wide Scan of Lung Cancer and Smoking

The majority of cases of lung cancer are the culmination of a dynamic process that begins with smoking initiation, proceeds through dependency and smoking persistence, continues with lung cancer development and ends with progression to disseminated disease or response to therapy and survival. We ...

phs000093.v2.p2 | EGA
UnknownFragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.
Not available
S-EPMC4932937 | biostudies-literature
Unknown20 ans apres: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Not available
S-EPMC4023218 | biostudies-literature
UnknownThe tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Not available
S-EPMC3914474 | biostudies-literature
UnknownTen new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
Not available
S-EPMC4613470 | biostudies-literature
UnknownDisease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Not available
S-EPMC6018712 | biostudies-literature
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