Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome-Reference-Cited by-同舟云学术

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

Published:2022-11 Issue:11 Volume:24 Page:2399-2407
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Oh Rachel Youjin^ORCID,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,Sanz-Moreno Adrián,Kraiger Markus,Marschall Susan,Fuchs Helmut,Gailus-Durner Valerie,Hrabe de Angelis Martin,Dowling James,Schulze Andreas^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

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4. Illuminating the functional and structural repertoire of human TBC/RABGAPs;Frasa;Nat Rev Mol Cell Biol,2012

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