Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A10
Variant:p.Q243K
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SLC2A10

NM_030777.4:p.Q243K

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

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

Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes.

Proost D et al.

Human Mutation, 2015

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."