Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.D1028Splc
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FBN1

NM_000138.5:p.D1028Splc

Associated Papers

Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Jensen SA et al.

Plos One, 2021

33735269 (PubMed )
Supplement: pone.0248532.s001.xlsx › S1_Table

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.

Tjeldhorn L et al.

Bmc Medical Genetics, 2015

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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."