Associated Papers
Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.
Al-Blushi S et al.
Cureus, 2022
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Insights into Substrate and Inhibitor Selectivity among Human GLUT Transporters through Comparative Modeling and Molecular Docking.
Ferreira RS et al.
Acs Omega, 2019
Severe neonatal hypertension revealing arterial tortuosity syndrome.
de Marcellus C et al.
Kidney International, 2018
Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.
Zimmermann MT et al.
Frontiers in Genetics, 2018
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
Ritelli M et al.
Bmc Medical Genetics, 2014
Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions.
Callewaert BL et al.
Genesis (new York, N.y. : 2000), 2008
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