Varaico: Literature-Extracted Genetic Variants

Gene:B3GAT3
Variant:p.S16*
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B3GAT3

NM_012200.4:p.S16*

Associated Papers

A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum.

Daşar T et al.

Molecular Syndromology, 2024

Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review.

Li Y et al.

Bmc Medical Genomics, 2022

Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.

Li Y et al.

American Journal of Translational Research, 2021

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