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CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
Smits, Daphne J; Dekker, Jordy; Schot, Rachel; Tabarki, Brahim; Alhashem, Amal; Demmers, Jeroen A A; Dekkers, Dick H W; Romito, Antonio; van der Spek, Peter J; van Ham, Tjakko J; Bertoli-Avella, Aida M; Mancini, Grazia M S.
Afiliação
  • Smits DJ; Department of Clinical Genetics, ErasmusMC University Medical Center, 3015 CN, Rotterdam, the Netherlands. d.smits@erasmusmc.nl.
  • Dekker J; Department of Clinical Genetics, ErasmusMC University Medical Center, 3015 CN, Rotterdam, the Netherlands. j.dekker.1@erasmusmc.nl.
  • Schot R; Department of Clinical Genetics, ErasmusMC University Medical Center, 3015 CN, Rotterdam, the Netherlands.
  • Tabarki B; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, 12233, Saudi Arabia.
  • Alhashem A; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, 12233, Saudi Arabia.
  • Demmers JAA; Department of Molecular Genetics, Proteomics Center, ErasmusMC University Medical Center, 3015 CN, Rotterdam, the Netherlands.
  • Dekkers DHW; Department of Molecular Genetics, Proteomics Center, ErasmusMC University Medical Center, 3015 CN, Rotterdam, the Netherlands.
  • Romito A; CENTOGENE GmbH, 18055, Rostock, Germany.
  • van der Spek PJ; Department of Pathology, Clinical Bioinformatics, ErasmusMC University Medical Center, 3015 CN, Rotterdam, the Netherlands.
  • van Ham TJ; Department of Clinical Genetics, ErasmusMC University Medical Center, 3015 CN, Rotterdam, the Netherlands.
  • Bertoli-Avella AM; CENTOGENE GmbH, 18055, Rostock, Germany.
  • Mancini GMS; Department of Clinical Genetics, ErasmusMC University Medical Center, 3015 CN, Rotterdam, the Netherlands.
Hum Genet ; 142(3): 379-397, 2023 Mar.
Article em En | MEDLINE | ID: mdl-36538041
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Actinas Limite: Animals / Humans Idioma: En Revista: Hum Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda País de publicação: Alemanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peixe-Zebra / Actinas Limite: Animals / Humans Idioma: En Revista: Hum Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda País de publicação: Alemanha