Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A10
Variant:p.Y139*
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SLC2A10

NM_030777.4:p.Y139*

Associated Papers

Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.

Qu HQ et al.

Journal of Molecular Medicine (berlin, Germany), 2025

Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients.

Esmel-Vilomara R et al.

European Journal of Medical Genetics, 2023

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

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

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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."