Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A10
Variant:p.R231Q
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SLC2A10

NM_030777.4:p.R231Q

Associated Papers

Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.

Al-Blushi S et al.

Cureus, 2022

Insights into Substrate and Inhibitor Selectivity among Human GLUT Transporters through Comparative Modeling and Molecular Docking.

Ferreira RS et al.

Acs Omega, 2019

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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

Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations.

Takahashi Y et al.

American Journal of Medical Genetics. Part A, 2013

Arterial tortuosity syndrome in two Italian paediatric patients.

Ritelli M et al.

Orphanet Journal of Rare Diseases, 2009

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Callewaert BL et al.

Human Mutation, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."