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- Title:
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
- Document type:
- Zeitschriftenaufsatz
- Author(s):
- Oh, Rachel Youjin; Deshwar, Ashish R.; Marwaha, Ashish; Sabha, Nesrin; Tropak, Michael; Hou, Huayun; Yuki, Kyoko E.; Wilson, Michael D.; Rump, Patrick; Lunsing, Roelineke; Elserafy, Noha; Chung, Clara W.T.; Hewson, Stacy; Klein-Rodewald, Tanja; Calzada-Wack, Julia; Moreno, Adrián Sanz; Kraiger, Markus; Marschall, Susan; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Dowling, James; Schulze, Andreas
- Journal title:
- Genetics in Medicine
- Year:
- 2022
- Fulltext / DOI:
- doi:10.1016/j.gim.2022.07.024
- Publisher:
- Elsevier BV
- E-ISSN:
- 1098-3600
- Date of publication:
- 01.09.2022
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