Associated Papers
Regulating the regulators: role of phosphorylation in modulating the function of the GBF1/BIG family of Sec7 ARF-GEFs.
Walton K et al.
Febs Letters, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28471432 (PubMed )
Supplement: gim201750x2.xlsx › TableS2B
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Vissers LELM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28333917 (PubMed )
Supplement: gim20171x1.zip › Vissers_GiM-D-16-00442__Supplementary_Table_4.xlsx › Suppl_Table_4
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
The Sec7 N-terminal regulatory domains facilitate membrane-proximal activation of the Arf1 GTPase.
Richardson BC et al.
Elife, 2016
Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review.
Tanyalçin I et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
Early embryonic lethality in gene trap mice with disruption of the Arfgef2 gene.
Grzmil P et al.
The International Journal of Developmental Biology, 2010
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.
Sheen VL et al.
Nature Genetics, 2004
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