Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A10
Variant:p.C252*
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SLC2A10

NM_030777.4:p.C252*

Associated Papers

Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.

Jiang Y et al.

Nature Communications, 2022

36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1

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

Arterial tortuosity syndrome in two Italian paediatric patients.

Ritelli M et al.

Orphanet Journal of Rare Diseases, 2009

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

Zaidi SH et al.

European Journal of Pediatrics, 2009

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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."