Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A10
Variant:p.R105C
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SLC2A10

NM_030777.4:p.R105C

Associated Papers

Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY).

Salamat B et al.

American Journal of Medical Genetics. Part A, 2025

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

Al-Blushi S et al.

Cureus, 2022

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

Arab gene geography: From population diversities to personalized medical genomics.

Tadmouri GO et al.

Global Cardiology Science & Practice, 2014

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

Faiyaz-Ul-Haque M et al.

Atherosclerosis, 2009

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.

Hardin JS et al.

Ophthalmic Genetics, 0

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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."