A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

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http://www.wikidata.org/entity/Q38900668
Loss of microRNA-7a2 induces hypogonadotropic hypogonadism and infertility.Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.Mutation screening of MIR146A/B and BRCA1/2 3'-UTRs in the GENESIS study.Dissection of allelic interactions among Pto-miR257 and its targets and their effects on growth and wood properties in Populus.A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation.RISE: a database of RNA interactome from sequencing experiments.Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.Downregulation of microRNA-193a-3p is involved in invertebral disc degeneration by targeting MMP14.
P2860

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.

Item
http://www.wikidata.org/entity/Q38900668
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A 3'-UTR mutation creates a mi ...... ongenital myasthenic syndrome.
@en
type
label
A 3'-UTR mutation creates a mi ...... ongenital myasthenic syndrome.
@en
prefLabel
A 3'-UTR mutation creates a mi ...... ongenital myasthenic syndrome.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
A 3'-UTR mutation creates a mi ...... ongenital myasthenic syndrome.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P921