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Everything about RAPSN
Protein-coding gene in the species Homo sapiens
43 kDa receptor-associated protein of the synapse (rapsyn) is a protein that in humans is encoded by the RAPSN gene. Wikipedia →
🧭 Start here: a 6-step reading path
- Read the overview: RAPSNA 5-minute orientation
- Skim a recent paper: Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSNInfluential work since 2022
- Read the landmark paper: Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia PatientsCited 106 times
- Go sideways: Congenital myasthenic syndromeA closely related topic
- Go sideways: Neuromuscular junctionA closely related topic
📖 Definitions
No dictionary entry for this exact phrase.
🗂️ The subject at a glance
🏆 Landmark papers (most cited)
Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder
DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations
Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation
🆕 Influential since 2022
Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome
In silico identification of pathogenic RAPSN mutations and ligand interactions in congenital myasthenic syndromes
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN
RAPSN ‐Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position
📚 Books worth reading
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🔗 Related topics
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- Agrin Agrin is a large proteoglycan whose best-characterised role is in the development of the neuromuscular junction during embryogenesis. Agrin is named based…
- Neuromuscular junction disease Neuromuscular junction disease is a medical condition where the normal conduction through the neuromuscular junction fails to function correctly. In diseases…
- CHRND Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene. The acetylcholine receptor of muscle has 5 subunits of 4…