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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Ammous, Zineb; Rawlins, Lettie E; Jones, Hannah; Leslie, Joseph S; Wenger, Olivia; Scott, Ethan; Deline, Jim; Herr, Tom; Evans, Rebecca; Scheid, Angela; Kennedy, Joanna; Chioza, Barry A; Ames, Ryan M; Cross, Harold E; Puffenberger, Erik G; Harries, Lorna; Baple, Emma L; Crosby, Andrew H.
Afiliação
  • Ammous Z; The Community Health Clinic, Topeka, Indiana, United States of America.
  • Rawlins LE; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Jones H; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Exeter, United Kingdom.
  • Leslie JS; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Wenger O; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Scott E; New Leaf Center, Clinic for Special Children, Mount Eaton, Ohio, United States of America.
  • Deline J; New Leaf Center, Clinic for Special Children, Mount Eaton, Ohio, United States of America.
  • Herr T; Center for Special Children, La Farge Medical Center, La Farge, Wisconsin, United States of America.
  • Evans R; Center for Special Children, La Farge Medical Center, La Farge, Wisconsin, United States of America.
  • Scheid A; The Community Health Clinic, Topeka, Indiana, United States of America.
  • Kennedy J; The Community Health Clinic, Topeka, Indiana, United States of America.
  • Chioza BA; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Ames RM; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Cross HE; Biosciences, Geoffrey Pope Building, University of Exeter, Exeter, United Kingdom.
  • Puffenberger EG; Department of Ophthalmology, University of Arizona College of Medicine, Tucson, Arizona, United States of America.
  • Harries L; Clinic for Special Children, Strasburg, Pennsylvania, United States of America.
  • Baple EL; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
  • Crosby AH; Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
PLoS Genet ; 17(9): e1009803, 2021 09.
Article em En | MEDLINE | ID: mdl-34570759
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a RNA / Alelos / Amish / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a RNA / Alelos / Amish / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos