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Paper Details

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Eur J Hum Genet
7
2021
119020256 A>G, G, NM_016146, RNA, TRAPP, TRAPPC4, TRAPPC4 c, TRAPPC4 c.454, TRAPPC4 c.454+, TRAPPC4 protein, TRAPPC4 splicing, TRAPPC4 splicing variant, TRAPPC4 variants, TRAPPC4-related encephalopathy, Trafficking protein particle, aberrant transcript, c.454+3A, developmental regression, downstream cryptic splice donor site, early-infantile neurodegenerative syndrome, epilepsy, exon 3, hg38:11, microcephaly, neurodegenerative, neurodevelopmental conditions, of TRAPPC4, patients, premature stop codon, psychomotor delay, spastic tetraplegia, splice variant
Author NameAffiliation
Laila SelimKasr Al Ainy School of Medicine, Cairo University Children Hospital
Anna C E HurstUniversity of Alabama at Birmingham
Vandana ShashiDuke University Medical Center
Kelly SchochDuke University Medical Center
Alistair T PagnamentaUniversity of Oxford
Henry HouldenQueen Square Institute of Neurology, University College London
Mahmoud Y IssaClinical Genetics Department, National Research Centre
Maha S ZakiClinical Genetics Department, National Research Centre
Joseph G GleesonUniversity of California
Joseph G GleesonRady Children's Institute for Genomic Medicine
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