Varaico: Literature-Extracted Genetic Variants

Gene:BGN
Variant:p.L137Q
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BGN

NM_001711.6:p.L137Q

Associated Papers

Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.

Shimizu K et al.

American Journal of Medical Genetics. Part A, 2011

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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."