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1 Ergebnisse
1
Bi-allelic SNAPC4 variants dysregulate global alternative s..:
Frost, F. Graeme
;
Morimoto, Marie
;
Sharma, Prashant
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119142/. , 2023
Link:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119142/
RT Journal T1
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
UL https://suche.suub.uni-bremen.de/peid=base-ftpubmed:oai:pubmedcentral.nih.gov:10119142&Exemplar=1&LAN=DE A1 Frost, F. Graeme A1 Morimoto, Marie A1 Sharma, Prashant A1 Ruaud, Lyse A1 Belnap, Newell A1 Calame, Daniel G A1 Uchiyama, Yuri A1 Matsumoto, Naomichi A1 Oud, Machteld M A1 Ferreira, Elise A A1 Narayanan, Vinodh A1 Rangasamy, Sampath A1 Huentelman, Matt A1 Emrick, Lisa T A1 Sato-Shirai, Ikuko A1 Kumada, Satoko A1 Wolf, Nicole I A1 Steinbach, Peter J A1 Huang, Yan A1 Pusey, Barbara N A1 Passemard, Sandrine A1 Levy, Jonathan A1 Drunat, Séverine A1 Vincent, Marie A1 Guet, Agnès A1 Agolini, Emanuele A1 Novelli, Antonio A1 Digilio, Maria Cristina A1 Rosenfeld, Jill A A1 Murphy, Jennifer L A1 Lupski, James R A1 Vezina, Gilbert A1 Macnamara, Ellen F A1 Adams, David R A1 Acosta, Maria T A1 Tifft, Cynthia J A1 Gahl, William A A1 Malicdan, May Christine V PB Elsevier YR 2023 K1 Article JF http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119142/ LK http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119142/ DO http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119142/ SF ELIB - SuUB Bremen
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