Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A10
Variant:p.L85P
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SLC2A10

NM_030777.4:p.L85P

Associated Papers

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

Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.

Kocova M et al.

Balkan Journal of Medical Genetics : Bjmg, 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

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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."