Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes

Author:

Koparir Asuman1,Karatas Omer Faruk2,Yilmaz Seda Salman3,Suer Ilknur1,Ozer Bugra4,Yuceturk Betul4,Ozen Mustafa35ORCID

Affiliation:

1. Department of Internal Medicine, Division of Medical Genetics; Istanbul University; Istanbul Turkey

2. Molecular Biology and Genetics Department; Erzurum Technical University; Erzurum Turkey

3. Department of Medical Genetics; Istanbul University, Cerrahpasa Medical School; Istanbul Turkey

4. Advanced Genomics and Bioinformatics Research Center; The Scientific and Technological Research Council of Turkey (TUBITAK-BILGEM); Kocaeli Turkey

5. Department of Pathology and Immunology; Baylor College of Medicine; Houston Texas

Funder

The Scientific and Technological Research Council of Turkey

The Republic of Turkey Ministry of Development Infrastructure

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference41 articles.

1. Mutations of the catalytic subunit of RAB3GAP cause Warburg micro syndrome;Aligianis;Nature Genetics,2005

2. Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome;Aligianis;American Journal of Human Genetics,2006

3. Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg micro syndrome;Asahina;Brain & Development,2016

4. Loss-of-function mutations in RAB18 cause Warburg micro syndrome;Bem;American Journal of Human Genetics,2011

5. A new case of Martsolf syndrome;Bora;Genetic Counseling,2007

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