Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.D180Splc
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FBN1

NM_000138.5:p.D180Splc

Associated Papers

[Oncogenes and thyroid tumors].

Lacroix L et al.

Bulletin Du Cancer, 2005

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene.

Mátyás G et al.

Human Mutation, 2002

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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."