Varaico: Literature-Extracted Genetic Variants

Gene:B3GALT6
Variant:p.P329_*330del1
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B3GALT6

NM_080605.4:p.P329_*330del1

Associated Papers

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Caraffi SG et al.

Genes, 2019

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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."