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Paper Details

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Brain
29
2020
G, GFP, GTPase, Rab1, TRAPP, TRAPP complex, TRAPP complex subunits, TRAPP complexes, TRAPP subunits, TRAPPC4, TRAPPC4 protein, TRAPPC4 variant, VSVG, autophagosomes, children, chr11, developmental delay, exon 3, fibroblasts, full-length transcript, g, guanine nucleotide, guanine nucleotide exchange factor, microcephaly, neurodevelopmental disorders, neurological disorders, non, polyacrylamide, progressive cortical and cerebellar atrophy, sensorineural deafness, spastic quadriparesis, syndromic intellectual disability, transport protein particle, ts045, variant hotspot region, wild, wild-type TRAPPC4, yeast, yeast Trs23 orthologue, yeast trs23, yeast trs23 temperature sensitive variant
Author NameAffiliation
Yiran GuoCenter for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP)
Yiran GuoCenter for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP)
Felicity CollinsChildren's Hospital at Westmead
Felicity CollinsRoyal Prince Alfred Hospital
Zeynep Coban AkdemirBaylor College of Medicine
Pengfei LiuBaylor College of Medicine
Shalini N JhangianiBaylor College of Medicine
Jennifer E PoseyBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Patrick M A SleimanCenter for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP)
Patrick M A SleimanCenter for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP)
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
Hakon HakonarsonCenter for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP)
Hakon HakonarsonCenter for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP)
John ChristodoulouMurdoch Children's Research Institute, Royal Children's Hospital
John ChristodoulouUniversity of Melbourne
John ChristodoulouVictorian Clinical Genetics Services, Royal Children's Hospital
John ChristodoulouThe Children's Hospital at Westmead
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