Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.E965_G973del9
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FBN1

NM_000138.5:p.E965_G973del9

Associated Papers

Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases　- Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma.

Fujiwara T et al.

Circulation Reports, 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."