Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
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Published:2021-07
Issue:7
Volume:53
Page:1006-1021
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Cousin Margot A.ORCID, Creighton Blake A.ORCID, Breau Keith A., Spillmann Rebecca C., Torti ErinORCID, Dontu Sruthi, Tripathi Swarnendu, Ajit Deepa, Edwards Reginald J.ORCID, Afriyie Simone, Bay Julia C., Harper Kathryn M.ORCID, Beltran Alvaro A.ORCID, Munoz Lorena J., Falcon Rodriguez Liset, Stankewich Michael C., Person Richard E., Si Yue, Normand Elizabeth A., Blevins Amy, May Alison S., Bier Louise, Aggarwal Vimla, Mancini Grazia M. S., van Slegtenhorst Marjon A., Cremer Kirsten, Becker Jessica, Engels Hartmut, Aretz Stefan, MacKenzie Jennifer J.ORCID, Brilstra Eva, van Gassen Koen L. I., van Jaarsveld Richard H.ORCID, Oegema RenskeORCID, Parsons Gretchen M.ORCID, Mark Paul, Helbig IngoORCID, McKeown Sarah E., Stratton Robert, Cogne BenjaminORCID, Isidor Bertrand, Cacheiro PilarORCID, Smedley Damian, Firth Helen V., Bierhals Tatjana, Kloth Katja, Weiss Deike, Fairley Cecilia, Shieh Joseph T.ORCID, Kritzer Amy, Jayakar Parul, Kurtz-Nelson Evangeline, Bernier Raphael A., Wang TianyunORCID, Eichler Evan E.ORCID, van de Laar Ingrid M. B. H., McConkie-Rosell Allyn, McDonald Marie T., Kemppainen Jennifer, Lanpher Brendan C., Schultz-Rogers Laura E., Gunderson Lauren B., Pichurin Pavel N., Yoon Grace, Zech Michael, Jech Robert, Winkelmann Juliane, Beltran Adriana S., Zimmermann Michael T.ORCID, Temple Brenda, Moy Sheryl S., Klee Eric W., Tan Queenie K.-G., Lorenzo Damaris N.ORCID, ,
Funder
U.S. Department of Health & Human Services | National Institutes of Health National Ataxia Foundation Center for Individualized Medicine at Mayo Clinic
Publisher
Springer Science and Business Media LLC
Reference82 articles.
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