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A relatively common homozygous TRAPPC4 splicing variant is ..:
Ghosh, Shereen G
;
Scala, Marcello
;
Beetz, Christian
...
qt8rz7m8qm. , 2021
Link:
https://escholarship.org/uc/item/8rz7m8qm
RT Journal T1
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt8rz7m8qm&Exemplar=1&LAN=DE A1 Ghosh, Shereen G A1 Scala, Marcello A1 Beetz, Christian A1 Helman, Guy A1 Stanley, Valentina A1 Yang, Xiaoxu A1 Breuss, Martin W A1 Mazaheri, Neda A1 Selim, Laila A1 Hadipour, Fatemeh A1 Pais, Lynn A1 Stutterd, Chloe A A1 Karageorgou, Vasiliki A1 Begtrup, Amber A1 Crunk, Amy A1 Juusola, Jane A1 Willaert, Rebecca A1 Flore, Leigh A A1 Kennelly, Kelly A1 Spencer, Christopher A1 Brown, Martha A1 Trapane, Pamela A1 Hurst, Anna CE A1 Lane Rutledge, S A1 Goodloe, Dana H A1 McDonald, Marie T A1 Shashi, Vandana A1 Schoch, Kelly A1 Tomoum, Hoda A1 Zaitoun, Raghda A1 Hadipour, Zahra A1 Galehdari, Hamid A1 Pagnamenta, Alistair T A1 Mojarrad, Majid A1 Sedaghat, Alireza A1 Dias, Patrícia A1 Quintas, Sofia A1 Eslahi, Atiyeh A1 Shariati, Gholamreza A1 Bauer, Peter A1 Simons, Cas A1 Houlden, Henry A1 Issa, Mahmoud Y A1 Zaki, Maha S A1 Maroofian, Reza A1 Gleeson, Joseph G PB eScholarship, University of California YR 2021 K1 Biological Sciences K1 Genetics K1 Brain Disorders K1 Rare Diseases K1 Clinical Research K1 Neurosciences K1 Human Genome K1 Pediatric K1 Neurodegenerative K1 Intellectual and Developmental Disabilities (IDD) K1 2.1 Biological and endogenous factors K1 Aetiology K1 Child K1 Preschool K1 Codon K1 Nonsense K1 Exome K1 Exons K1 Female K1 Homozygote K1 Humans K1 Male K1 Microcephaly K1 Nerve Tissue Proteins K1 Neurodevelopmental Disorders K1 Pedigree K1 RNA Splice Sites K1 RNA Splicing K1 Syndrome K1 Vesicular Transport Proteins K1 Undiagnosed Diseases Network K1 Clinical Sciences K1 Genetics & Heredity JF qt8rz7m8qm LK http://dx.doi.org/https://escholarship.org/uc/item/8rz7m8qm DO https://escholarship.org/uc/item/8rz7m8qm SF ELIB - SuUB Bremen
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