Varaico: Literature-Extracted Genetic Variants

Gene:THSD4
Variant:p.G51_A52ins0
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THSD4

NM_024817.3:p.G51_A52ins0

Associated Papers

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.

Elbitar S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32855533 (PubMed )
Supplement: NIHMS1729355-supplement-Supplementary_file.pdf
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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."