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Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects |
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Titel: |
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects |
Auteur: |
Polavarapu, Kiran O'Neil, Daniel Thompson, Rachel Spendiff, Sally Nandeesh, Bevinahalli Vengalil, Seena Huddar, Akshata Baskar, Dipti Arunachal, Gautham Kotambail, Ananthapadmanabha Bhatia, Saloni Tumulu, Seetam Kumar Matalonga, Leslie Töpf, Ana Laurie, Steven Zeldin, Joshua Nashi, Saraswati Unnikrishnan, Gopikrishnan Nalini, Atchayaram Lochmüller, Hanns |
Verschenen in: |
Neuromuscular disorders |
Paginering: |
Jaargang 39 () nr. C pagina's 10-18 |
Jaar: |
2024 |
Inhoud: |
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Uitgever: |
Elsevier B.V. |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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