Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
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Published:2021-05
Issue:5
Volume:108
Page:857-873
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
Voisin NorineORCID, Schnur Rhonda E., Douzgou Sofia, Hiatt Susan M., Rustad Cecilie F., Brown Natasha J., Earl Dawn L., Keren Boris, Levchenko Olga, Geuer Sinje, Verheyen Sarah, Johnson Diana, Zarate Yuri A., Hančárová Miroslava, Amor David J., Bebin E. Martina, Blatterer Jasmin, Brusco Alfredo, Cappuccio Gerarda, Charrow Joel, Chatron Nicolas, Cooper Gregory M., Courtin Thomas, Dadali Elena, Delafontaine Julien, Del Giudice Ennio, Doco Martine, Douglas Ganka, Eisenkölbl Astrid, Funari Tara, Giannuzzi Giuliana, Gruber-Sedlmayr Ursula, Guex Nicolas, Heron Delphine, Holla Øystein L., Hurst Anna C.E., Juusola Jane, Kronn David, Lavrov Alexander, Lee Crystle, Lorrain Séverine, Merckoll Else, Mikhaleva Anna, Norman Jennifer, Pradervand Sylvain, Prchalová Darina, Rhodes Lindsay, Sanders Victoria R., Sedláček Zdeněk, Seebacher Heidelis A., Sellars Elizabeth A., Sirchia Fabio, Takenouchi Toshiki, Tanaka Akemi J., Taska-Tench Heidi, Tønne Elin, Tveten Kristian, Vitiello Giuseppina, Vlčková Markéta, Uehara Tomoko, Nava Caroline, Yalcin Binnaz, Kosaki Kenjiro, Donnai Dian, Mundlos Stefan, Brunetti-Pierri Nicola, Chung Wendy K., Reymond Alexandre
Funder
Ministry of Health of the Czech Republic Wellcome Trust NHGRI SFARI Swiss National Science Foundation
Subject
Genetics(clinical),Genetics
Cited by
23 articles.
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