Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.P1024S
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FBN1

NM_000138.5:p.P1024S

Associated Papers

Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.

Yagi H et al.

American Journal of Medical Genetics. Part A, 2022

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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."