Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.E174fs
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B3GALT6

NM_080605.4:p.E174fs

Associated Papers

Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 -Related Disorders: Clinical Experience and Literature Review.

Maheshati A et al.

Orthopaedic Surgery, 2025

Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.

Shen F et al.

Frontiers in Genetics, 2022

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome.

Van Damme T et al.

Human Molecular Genetics, 2018

The Ehlers-Danlos syndromes, rare types.

Brady AF et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017

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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."