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lethal congenital contracture syndrome
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GLE1
The mRNA export factor human Gle1 interacts with the nuclear pore complex protein Nup155
MYBPC1
Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment
DNM2
Sorting nexin 9 participates in clathrin-mediated endocytosis through interactions with the core components
Cancer Gene Census
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DNM2
Somatic tumors
T-ALL
Tumor types germline
Cancer Syndrom
Translocation partner
Name
dynamin 2
Chromosome banding
19p13.2
Cancer molecular gen.
Rec
Mutation type
F, N, S, Mis, O
Other syndrome disease
Charcot-Marie-Tooth disease, centronuclear myopathy, lethal congenital contracture syndrome 5
Definition
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Pathways
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Modal title
Clathrin derived vesicle budding
species not specified
one gene
Clinical Trials
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